Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154029350_154029354delinsCTGTT , CM000685.2:g.154029350_154029354delinsCTGTT	GRCh38
NC_000023.10:g.153294801_153294805delinsCTGTT , CM000685.1:g.153294801_153294805delinsCTGTT	GRCh37
NC_000023.9:g.152947995_152947999delinsCTGTT	NCBI36
NG_007107.2:g.112774_112778delinsAACAG
NG_007107.3:g.112750_112754delinsAACAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.1013_1017delinsAACAG MANE Plus Clinical	ENSP00000301948.6:n.1013_1017delinsAACAG
ENST00000453960.7:c.1013_1017delinsAACAG MANE Select	ENSP00000395535.2:n.1013_1017delinsAACAG
ENST00000303391.10:c.1013_1017delinsAACAG	ENSP00000301948.6:n.1013_1017delinsAACAG
ENST00000619732.4:c.940_944delinsAACAG	ENSP00000480973.1:n.940_944delinsAACAG
NM_004992.3:c.1013_1017delinsAACAG	NP_004983.1:n.1013_1017delinsAACAG
XM_005274681.3:c.1013_1017delinsAACAG	XP_005274738.1:n.1013_1017delinsAACAG
XM_005274682.3:c.1013_1017delinsAACAG	XP_005274739.1:n.1013_1017delinsAACAG
XM_005274683.3:c.1013_1017delinsAACAG	XP_005274740.1:n.1013_1017delinsAACAG
XM_006724819.2:c.1013_1017delinsAACAG	XP_006724882.1:n.1013_1017delinsAACAG
XM_011531166.1:c.1013_1017delinsAACAG	XP_011529468.1:n.1013_1017delinsAACAG
XM_006724819.3:c.1013_1017delinsAACAG	XP_006724882.1:n.1013_1017delinsAACAG
XM_011531166.2:c.1013_1017delinsAACAG	XP_011529468.1:n.1013_1017delinsAACAG
XM_024452383.1:c.1013_1017delinsAACAG	XP_024308151.1:n.1013_1017delinsAACAG
XM_024452384.1:c.1013_1017delinsAACAG	XP_024308152.1:n.1013_1017delinsAACAG
NM_001110792.2:c.1013_1017delinsAACAG MANE Select	NP_001104262.1:n.1013_1017delinsAACAG
NM_001316337.2:c.1013_1017delinsAACAG	NP_001303266.1:n.1013_1017delinsAACAG
NM_001369391.2:c.1013_1017delinsAACAG	NP_001356320.1:n.1013_1017delinsAACAG
NM_001369392.2:c.1013_1017delinsAACAG	NP_001356321.1:n.1013_1017delinsAACAG
NM_001369393.2:c.1013_1017delinsAACAG	NP_001356322.1:n.1013_1017delinsAACAG
NM_001369394.2:c.1013_1017delinsAACAG	NP_001356323.1:n.1013_1017delinsAACAG
NM_001386137.1:c.1013_1017delinsAACAG	NP_001373066.1:n.1013_1017delinsAACAG
NM_001386138.1:c.1013_1017delinsAACAG	NP_001373067.1:n.1013_1017delinsAACAG
NM_001386139.1:c.1013_1017delinsAACAG	NP_001373068.1:n.1013_1017delinsAACAG
NM_004992.4:c.1013_1017delinsAACAG MANE Plus Clinical	NP_004983.1:n.1013_1017delinsAACAG

HGVS	Amino-acid Change
ENST00000303391.11:c.1013_1017delinsAACAG MANE Plus Clinical	ENSP00000301948.6:n.1013_1017delinsAACAG
ENST00000453960.7:c.1013_1017delinsAACAG MANE Select	ENSP00000395535.2:n.1013_1017delinsAACAG
ENST00000303391.10:c.1013_1017delinsAACAG	ENSP00000301948.6:n.1013_1017delinsAACAG
ENST00000619732.4:c.940_944delinsAACAG	ENSP00000480973.1:n.940_944delinsAACAG
NM_004992.3:c.1013_1017delinsAACAG	NP_004983.1:n.1013_1017delinsAACAG
XM_005274681.3:c.1013_1017delinsAACAG	XP_005274738.1:n.1013_1017delinsAACAG
XM_005274682.3:c.1013_1017delinsAACAG	XP_005274739.1:n.1013_1017delinsAACAG
XM_005274683.3:c.1013_1017delinsAACAG	XP_005274740.1:n.1013_1017delinsAACAG
XM_006724819.2:c.1013_1017delinsAACAG	XP_006724882.1:n.1013_1017delinsAACAG
XM_011531166.1:c.1013_1017delinsAACAG	XP_011529468.1:n.1013_1017delinsAACAG
XM_006724819.3:c.1013_1017delinsAACAG	XP_006724882.1:n.1013_1017delinsAACAG
XM_011531166.2:c.1013_1017delinsAACAG	XP_011529468.1:n.1013_1017delinsAACAG
XM_024452383.1:c.1013_1017delinsAACAG	XP_024308151.1:n.1013_1017delinsAACAG
XM_024452384.1:c.1013_1017delinsAACAG	XP_024308152.1:n.1013_1017delinsAACAG
NM_001110792.2:c.1013_1017delinsAACAG MANE Select	NP_001104262.1:n.1013_1017delinsAACAG
NM_001316337.2:c.1013_1017delinsAACAG	NP_001303266.1:n.1013_1017delinsAACAG
NM_001369391.2:c.1013_1017delinsAACAG	NP_001356320.1:n.1013_1017delinsAACAG
NM_001369392.2:c.1013_1017delinsAACAG	NP_001356321.1:n.1013_1017delinsAACAG
NM_001369393.2:c.1013_1017delinsAACAG	NP_001356322.1:n.1013_1017delinsAACAG
NM_001369394.2:c.1013_1017delinsAACAG	NP_001356323.1:n.1013_1017delinsAACAG
NM_001386137.1:c.1013_1017delinsAACAG	NP_001373066.1:n.1013_1017delinsAACAG
NM_001386138.1:c.1013_1017delinsAACAG	NP_001373067.1:n.1013_1017delinsAACAG
NM_001386139.1:c.1013_1017delinsAACAG	NP_001373068.1:n.1013_1017delinsAACAG
NM_004992.4:c.1013_1017delinsAACAG MANE Plus Clinical	NP_004983.1:n.1013_1017delinsAACAG