Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030244_154030245delinsGA , CM000685.2:g.154030244_154030245delinsGA	GRCh38
NC_000023.10:g.153295695_153295696delinsGA , CM000685.1:g.153295695_153295696delinsGA	GRCh37
NC_000023.9:g.152948889_152948890delinsGA	NCBI36
NG_007107.2:g.111883_111884delinsTC
NG_007107.3:g.111859_111860delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.122_123delinsTC MANE Plus Clinical	ENSP00000301948.6:n.122_123delinsTC
ENST00000453960.7:c.122_123delinsTC MANE Select	ENSP00000395535.2:n.122_123delinsTC
ENST00000303391.10:c.122_123delinsTC	ENSP00000301948.6:n.122_123delinsTC
ENST00000453960.6:c.122_123delinsTC	ENSP00000395535.2:n.122_123delinsTC
ENST00000619732.4:c.49_50delinsTC	ENSP00000480973.1:n.49_50delinsTC
ENST00000628176.2:c.955_956delinsTC	ENSP00000486978.1:n.955_956delinsTC
NM_001110792.1:c.122_123delinsTC	NP_001104262.1:n.122_123delinsTC
NM_001316337.1:c.122_123delinsTC	NP_001303266.1:n.122_123delinsTC
NM_004992.3:c.122_123delinsTC	NP_004983.1:n.122_123delinsTC
XM_005274681.3:c.122_123delinsTC	XP_005274738.1:n.122_123delinsTC
XM_005274682.3:c.122_123delinsTC	XP_005274739.1:n.122_123delinsTC
XM_005274683.3:c.122_123delinsTC	XP_005274740.1:n.122_123delinsTC
XM_006724819.2:c.122_123delinsTC	XP_006724882.1:n.122_123delinsTC
XM_011531166.1:c.122_123delinsTC	XP_011529468.1:n.122_123delinsTC
XM_006724819.3:c.122_123delinsTC	XP_006724882.1:n.122_123delinsTC
XM_011531166.2:c.122_123delinsTC	XP_011529468.1:n.122_123delinsTC
XM_024452383.1:c.122_123delinsTC	XP_024308151.1:n.122_123delinsTC
XM_024452384.1:c.122_123delinsTC	XP_024308152.1:n.122_123delinsTC
NM_001110792.2:c.122_123delinsTC MANE Select	NP_001104262.1:n.122_123delinsTC
NM_001316337.2:c.122_123delinsTC	NP_001303266.1:n.122_123delinsTC
NM_001369391.2:c.122_123delinsTC	NP_001356320.1:n.122_123delinsTC
NM_001369392.2:c.122_123delinsTC	NP_001356321.1:n.122_123delinsTC
NM_001369393.2:c.122_123delinsTC	NP_001356322.1:n.122_123delinsTC
NM_001369394.1:c.122_123delinsTC	NP_001356323.1:n.122_123delinsTC
NM_001369394.2:c.122_123delinsTC	NP_001356323.1:n.122_123delinsTC
NM_001386137.1:c.122_123delinsTC	NP_001373066.1:n.122_123delinsTC
NM_001386138.1:c.122_123delinsTC	NP_001373067.1:n.122_123delinsTC
NM_001386139.1:c.122_123delinsTC	NP_001373068.1:n.122_123delinsTC
NM_004992.4:c.122_123delinsTC MANE Plus Clinical	NP_004983.1:n.122_123delinsTC

HGVS	Amino-acid Change
ENST00000303391.11:c.122_123delinsTC MANE Plus Clinical	ENSP00000301948.6:n.122_123delinsTC
ENST00000453960.7:c.122_123delinsTC MANE Select	ENSP00000395535.2:n.122_123delinsTC
ENST00000303391.10:c.122_123delinsTC	ENSP00000301948.6:n.122_123delinsTC
ENST00000453960.6:c.122_123delinsTC	ENSP00000395535.2:n.122_123delinsTC
ENST00000619732.4:c.49_50delinsTC	ENSP00000480973.1:n.49_50delinsTC
ENST00000628176.2:c.955_956delinsTC	ENSP00000486978.1:n.955_956delinsTC
NM_001110792.1:c.122_123delinsTC	NP_001104262.1:n.122_123delinsTC
NM_001316337.1:c.122_123delinsTC	NP_001303266.1:n.122_123delinsTC
NM_004992.3:c.122_123delinsTC	NP_004983.1:n.122_123delinsTC
XM_005274681.3:c.122_123delinsTC	XP_005274738.1:n.122_123delinsTC
XM_005274682.3:c.122_123delinsTC	XP_005274739.1:n.122_123delinsTC
XM_005274683.3:c.122_123delinsTC	XP_005274740.1:n.122_123delinsTC
XM_006724819.2:c.122_123delinsTC	XP_006724882.1:n.122_123delinsTC
XM_011531166.1:c.122_123delinsTC	XP_011529468.1:n.122_123delinsTC
XM_006724819.3:c.122_123delinsTC	XP_006724882.1:n.122_123delinsTC
XM_011531166.2:c.122_123delinsTC	XP_011529468.1:n.122_123delinsTC
XM_024452383.1:c.122_123delinsTC	XP_024308151.1:n.122_123delinsTC
XM_024452384.1:c.122_123delinsTC	XP_024308152.1:n.122_123delinsTC
NM_001110792.2:c.122_123delinsTC MANE Select	NP_001104262.1:n.122_123delinsTC
NM_001316337.2:c.122_123delinsTC	NP_001303266.1:n.122_123delinsTC
NM_001369391.2:c.122_123delinsTC	NP_001356320.1:n.122_123delinsTC
NM_001369392.2:c.122_123delinsTC	NP_001356321.1:n.122_123delinsTC
NM_001369393.2:c.122_123delinsTC	NP_001356322.1:n.122_123delinsTC
NM_001369394.1:c.122_123delinsTC	NP_001356323.1:n.122_123delinsTC
NM_001369394.2:c.122_123delinsTC	NP_001356323.1:n.122_123delinsTC
NM_001386137.1:c.122_123delinsTC	NP_001373066.1:n.122_123delinsTC
NM_001386138.1:c.122_123delinsTC	NP_001373067.1:n.122_123delinsTC
NM_001386139.1:c.122_123delinsTC	NP_001373068.1:n.122_123delinsTC
NM_004992.4:c.122_123delinsTC MANE Plus Clinical	NP_004983.1:n.122_123delinsTC