Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030411_154030413delinsCCT , CM000685.2:g.154030411_154030413delinsCCT	GRCh38
NC_000023.10:g.153295862_153295864delinsCCT , CM000685.1:g.153295862_153295864delinsCCT	GRCh37
NC_000023.9:g.152949056_152949058delinsCCT	NCBI36
NG_007107.2:g.111715_111717delinsAGG
NG_007107.3:g.111691_111693delinsAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.1415_1417delinsAGG MANE Plus Clinical	ENSP00000301948.6:p.Glu472=
ENST00000453960.7:c.1451_1453delinsAGG MANE Select	ENSP00000395535.2:p.Glu484=
ENST00000303391.10:c.1415_1417delinsAGG	ENSP00000301948.6:p.Glu472=
ENST00000453960.6:c.1451_1453delinsAGG	ENSP00000395535.2:p.Glu484=
ENST00000619732.4:c.1415_1417delinsAGG	ENSP00000480973.1:p.Glu472=
ENST00000628176.2:c.787_789delinsAGG	ENSP00000486978.1:n.787_789delinsAGG
NM_001110792.1:c.1451_1453delinsAGG	NP_001104262.1:p.Glu484=
NM_001316337.1:c.1136_1138delinsAGG	NP_001303266.1:p.Glu379=
NM_004992.3:c.1415_1417delinsAGG	NP_004983.1:p.Glu472=
XM_005274681.3:c.1415_1417delinsAGG	XP_005274738.1:p.Glu472=
XM_005274682.3:c.1136_1138delinsAGG	XP_005274739.1:p.Glu379=
XM_005274683.3:c.1136_1138delinsAGG	XP_005274740.1:p.Glu379=
XM_006724819.2:c.746_748delinsAGG	XP_006724882.1:p.Glu249=
XM_011531166.1:c.1136_1138delinsAGG	XP_011529468.1:p.Glu379=
XM_006724819.3:c.746_748delinsAGG	XP_006724882.1:p.Glu249=
XM_011531166.2:c.1136_1138delinsAGG	XP_011529468.1:p.Glu379=
XM_024452383.1:c.1136_1138delinsAGG	XP_024308151.1:p.Glu379=
XM_024452384.1:c.1136_1138delinsAGG	XP_024308152.1:p.Glu379=
NM_001110792.2:c.1451_1453delinsAGG MANE Select	NP_001104262.1:p.Glu484=
NM_001316337.2:c.1136_1138delinsAGG	NP_001303266.1:p.Glu379=
NM_001369391.2:c.1136_1138delinsAGG	NP_001356320.1:p.Glu379=
NM_001369392.2:c.1136_1138delinsAGG	NP_001356321.1:p.Glu379=
NM_001369393.2:c.1136_1138delinsAGG	NP_001356322.1:p.Glu379=
NM_001369394.1:c.1136_1138delinsAGG	NP_001356323.1:p.Glu379=
NM_001369394.2:c.1136_1138delinsAGG	NP_001356323.1:p.Glu379=
NM_001386137.1:c.746_748delinsAGG	NP_001373066.1:p.Glu249=
NM_001386138.1:c.746_748delinsAGG	NP_001373067.1:p.Glu249=
NM_001386139.1:c.746_748delinsAGG	NP_001373068.1:p.Glu249=
NM_004992.4:c.1415_1417delinsAGG MANE Plus Clinical	NP_004983.1:p.Glu472=