Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154031296_154031297delinsAT , CM000685.2:g.154031296_154031297delinsAT	GRCh38
NC_000023.10:g.153296747_153296748delinsAT , CM000685.1:g.153296747_153296748delinsAT	GRCh37
NC_000023.9:g.152949941_152949942delinsAT	NCBI36
NG_007107.2:g.110831_110832delinsAT
NG_007107.3:g.110807_110808delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.531_532delinsAT MANE Plus Clinical	ENSP00000301948.6:p.Lys177=
ENST00000453960.7:c.567_568delinsAT MANE Select	ENSP00000395535.2:p.Lys189=
ENST00000637917.1:c.65+99_65+100delinsAT
ENST00000303391.10:c.531_532delinsAT	ENSP00000301948.6:p.Lys177=
ENST00000407218.5:c.469-11_469-10delinsAT	ENSP00000384865.2:n.469-11_469-10delinsAT
ENST00000453960.6:c.567_568delinsAT	ENSP00000395535.2:p.Lys189=
ENST00000486506.5:n.2879_2880delinsAT
ENST00000619732.4:c.531_532delinsAT	ENSP00000480973.1:p.Lys177=
ENST00000622433.4:c.519_520delinsAT	ENSP00000484470.1:p.Lys173=
ENST00000628176.2:c.433-11_433-10delinsAT	ENSP00000486978.1:n.433-11_433-10delinsAT
NM_001110792.1:c.567_568delinsAT	NP_001104262.1:p.Lys189=
NM_001316337.1:c.252_253delinsAT	NP_001303266.1:p.Lys84=
NM_004992.3:c.531_532delinsAT	NP_004983.1:p.Lys177=
XM_005274681.3:c.531_532delinsAT	XP_005274738.1:p.Lys177=
XM_005274682.3:c.252_253delinsAT	XP_005274739.1:p.Lys84=
XM_005274683.3:c.252_253delinsAT	XP_005274740.1:p.Lys84=
XM_006724819.2:c.-128-11_-128-10delinsAT	XP_006724882.1:n.-128-11_-128-10delinsAT
XM_011531166.1:c.252_253delinsAT	XP_011529468.1:p.Lys84=
XM_006724819.3:c.-128-11_-128-10delinsAT	XP_006724882.1:n.-128-11_-128-10delinsAT
XM_011531166.2:c.252_253delinsAT	XP_011529468.1:p.Lys84=
XM_024452383.1:c.252_253delinsAT	XP_024308151.1:p.Lys84=
XM_024452384.1:c.252_253delinsAT	XP_024308152.1:p.Lys84=
NM_001110792.2:c.567_568delinsAT MANE Select	NP_001104262.1:p.Lys189=
NM_001316337.2:c.252_253delinsAT	NP_001303266.1:p.Lys84=
NM_001369391.2:c.252_253delinsAT	NP_001356320.1:p.Lys84=
NM_001369392.2:c.252_253delinsAT	NP_001356321.1:p.Lys84=
NM_001369393.2:c.252_253delinsAT	NP_001356322.1:p.Lys84=
NM_001369394.1:c.252_253delinsAT	NP_001356323.1:p.Lys84=
NM_001369394.2:c.252_253delinsAT	NP_001356323.1:p.Lys84=
NM_001386137.1:c.-128-11_-128-10delinsAT	NP_001373066.1:n.-128-11_-128-10delinsAT
NM_001386138.1:c.-128-11_-128-10delinsAT	NP_001373067.1:n.-128-11_-128-10delinsAT
NM_001386139.1:c.-128-11_-128-10delinsAT	NP_001373068.1:n.-128-11_-128-10delinsAT
NM_004992.4:c.531_532delinsAT MANE Plus Clinical	NP_004983.1:p.Lys177=