Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222660_7222662delinsGAC , CM000679.2:g.7222660_7222662delinsGAC	GRCh38
NC_000017.10:g.7125979_7125981delinsGAC , CM000679.1:g.7125979_7125981delinsGAC	GRCh37
NC_000017.9:g.7066703_7066705delinsGAC	NCBI36
NG_007975.1:g.7827_7829delinsGAC
NG_008391.2:g.2389_2391delinsGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.879-7_879-5delinsGAC MANE Select	ENSP00000349297.5:n.879-7_879-5delinsGAC
ENST00000322910.9:c.834-7_834-5delinsGAC	ENSP00000325395.5:n.834-7_834-5delinsGAC
ENST00000350303.9:c.813-7_813-5delinsGAC	ENSP00000344152.5:n.813-7_813-5delinsGAC
ENST00000356839.9:c.879-7_879-5delinsGAC	ENSP00000349297.5:n.879-7_879-5delinsGAC
ENST00000543245.6:c.948-7_948-5delinsGAC	ENSP00000438689.2:n.948-7_948-5delinsGAC
ENST00000578824.5:n.21_23delinsGAC
ENST00000581378.5:c.597-7_597-5delinsGAC
ENST00000582379.1:n.263-7_263-5delinsGAC
NM_000018.3:c.879-7_879-5delinsGAC	NP_000009.1:n.879-7_879-5delinsGAC
NM_001033859.2:c.813-7_813-5delinsGAC	NP_001029031.1:n.813-7_813-5delinsGAC
NM_001270447.1:c.948-7_948-5delinsGAC	NP_001257376.1:n.948-7_948-5delinsGAC
NM_001270448.1:c.651-7_651-5delinsGAC	NP_001257377.1:n.651-7_651-5delinsGAC
XM_006721516.2:c.879-7_879-5delinsGAC	XP_006721579.2:n.879-7_879-5delinsGAC
XM_011523829.1:c.879-7_879-5delinsGAC	XP_011522131.1:n.879-7_879-5delinsGAC
XM_011523830.1:c.879-7_879-5delinsGAC	XP_011522132.1:n.879-7_879-5delinsGAC
XR_934021.1:n.986-7_986-5delinsGAC
XR_934022.1:n.986-7_986-5delinsGAC
XR_934023.1:n.986-7_986-5delinsGAC
XM_006721516.3:c.879-7_879-5delinsGAC	XP_006721579.2:n.879-7_879-5delinsGAC
XM_011523829.2:c.879-7_879-5delinsGAC	XP_011522131.1:n.879-7_879-5delinsGAC
XM_011523830.2:c.879-7_879-5delinsGAC	XP_011522132.1:n.879-7_879-5delinsGAC
XM_024450741.1:c.879-7_879-5delinsGAC	XP_024306509.1:n.879-7_879-5delinsGAC
XR_934021.2:n.938-7_938-5delinsGAC
XR_934022.2:n.938-7_938-5delinsGAC
XR_934023.2:n.938-7_938-5delinsGAC
NM_000018.4:c.879-7_879-5delinsGAC MANE Select	NP_000009.1:n.879-7_879-5delinsGAC
NM_001033859.3:c.813-7_813-5delinsGAC	NP_001029031.1:n.813-7_813-5delinsGAC
NM_001270447.2:c.948-7_948-5delinsGAC	NP_001257376.1:n.948-7_948-5delinsGAC
NM_001270448.2:c.651-7_651-5delinsGAC	NP_001257377.1:n.651-7_651-5delinsGAC