Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.25245351_25245352delinsAC , CM000674.2:g.25245351_25245352delinsAC	GRCh38
NC_000012.11:g.25398285_25398286delinsAC , CM000674.1:g.25398285_25398286delinsAC	GRCh37
NC_000012.10:g.25289552_25289553delinsAC	NCBI36
NG_007524.1:g.10569_10570delinsGT
NG_007524.2:g.10652_10653delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556131.2:c.33_34delinsGT	ENSP00000451856.1:p.Gly12Cys
ENST00000557334.6:c.33_34delinsGT	ENSP00000452512.1:p.Gly12Cys
ENST00000685328.1:c.33_34delinsGT	ENSP00000508921.1:p.Gly12Cys
ENST00000686877.1:c.33_34delinsGT	ENSP00000510431.1:p.Gly12Cys
ENST00000686969.1:c.33_34delinsGT	ENSP00000510479.1:p.Gly12Cys
ENST00000687356.1:c.33_34delinsGT	ENSP00000510511.1:p.Gly12Cys
ENST00000688940.1:c.33_34delinsGT	ENSP00000509238.1:p.Gly12Cys
ENST00000690804.1:c.33_34delinsGT	ENSP00000508568.1:p.Gly12Cys
ENST00000692768.1:c.-88+5399_-88+5400delinsGT	ENSP00000510254.1:n.-88+5399_-88+5400delinsGT
ENST00000693229.1:c.33_34delinsGT	ENSP00000509223.1:p.Gly12Cys
ENST00000256078.10:c.33_34delinsGT MANE Plus Clinical	ENSP00000256078.5:p.Gly12Cys
ENST00000311936.8:c.33_34delinsGT MANE Select	ENSP00000308495.3:p.Gly12Cys
ENST00000256078.8:c.33_34delinsGT	ENSP00000256078.4:p.Gly12Cys
ENST00000311936.7:c.33_34delinsGT	ENSP00000308495.3:p.Gly12Cys
ENST00000556131.1:c.33_34delinsGT	ENSP00000451856.1:p.Gly12Cys
ENST00000557334.5:c.33_34delinsGT	ENSP00000452512.1:p.Gly12Cys
NM_004985.4:c.33_34delinsGT	NP_004976.2:p.Gly12Cys
NM_033360.3:c.33_34delinsGT	NP_203524.1:p.Gly12Cys
XM_006719069.2:c.33_34delinsGT	XP_006719132.1:p.Gly12Cys
XM_011520653.1:c.33_34delinsGT	XP_011518955.1:p.Gly12Cys
XM_006719069.4:c.33_34delinsGT	XP_006719132.1:p.Gly12Cys
XM_011520653.3:c.33_34delinsGT	XP_011518955.1:p.Gly12Cys
NM_001369786.1:c.33_34delinsGT	NP_001356715.1:p.Gly12Cys
NM_001369787.1:c.33_34delinsGT	NP_001356716.1:p.Gly12Cys
NM_004985.5:c.33_34delinsGT MANE Select	NP_004976.2:p.Gly12Cys
NM_033360.4:c.33_34delinsGT MANE Plus Clinical	NP_203524.1:p.Gly12Cys