Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221661_7221663delinsTAC , CM000679.2:g.7221661_7221663delinsTAC	GRCh38
NC_000017.10:g.7124980_7124982delinsTAC , CM000679.1:g.7124980_7124982delinsTAC	GRCh37
NC_000017.9:g.7065704_7065706delinsTAC	NCBI36
NG_007975.1:g.6828_6830delinsTAC
NG_008391.2:g.3388_3390delinsGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.601_603delinsTAC MANE Select	ENSP00000349297.5:p.Tyr201=
ENST00000322910.9:c.556_558delinsTAC	ENSP00000325395.5:n.556_558delinsTAC
ENST00000350303.9:c.535_537delinsTAC	ENSP00000344152.5:p.Tyr179=
ENST00000356839.9:c.601_603delinsTAC	ENSP00000349297.5:p.Tyr201=
ENST00000543245.6:c.670_672delinsTAC	ENSP00000438689.2:p.Tyr224=
ENST00000577191.5:n.678_680delinsTAC
ENST00000577857.5:n.417_419delinsTAC
ENST00000579286.5:n.782_784delinsTAC
ENST00000579886.2:c.439_441delinsTAC	ENSP00000463246.1:p.Tyr147=
ENST00000580365.1:n.332_334delinsTAC
ENST00000581378.5:c.319_321delinsTAC
ENST00000581562.5:n.525-291_525-289delinsTAC
ENST00000583312.5:c.601_603delinsTAC	ENSP00000467920.1:p.Tyr201=
ENST00000583760.1:n.383_385delinsTAC
NM_000018.3:c.601_603delinsTAC	NP_000009.1:p.Tyr201=
NM_001033859.2:c.535_537delinsTAC	NP_001029031.1:p.Tyr179=
NM_001270447.1:c.670_672delinsTAC	NP_001257376.1:p.Tyr224=
NM_001270448.1:c.373_375delinsTAC	NP_001257377.1:p.Tyr125=
XM_006721516.2:c.601_603delinsTAC	XP_006721579.2:p.Tyr201=
XM_011523829.1:c.601_603delinsTAC	XP_011522131.1:p.Tyr201=
XM_011523830.1:c.601_603delinsTAC	XP_011522132.1:p.Tyr201=
XR_934021.1:n.708_710delinsTAC
XR_934022.1:n.708_710delinsTAC
XR_934023.1:n.708_710delinsTAC
XM_006721516.3:c.601_603delinsTAC	XP_006721579.2:p.Tyr201=
XM_011523829.2:c.601_603delinsTAC	XP_011522131.1:p.Tyr201=
XM_011523830.2:c.601_603delinsTAC	XP_011522132.1:p.Tyr201=
XM_024450741.1:c.601_603delinsTAC	XP_024306509.1:p.Tyr201=
XR_934021.2:n.660_662delinsTAC
XR_934022.2:n.660_662delinsTAC
XR_934023.2:n.660_662delinsTAC
NM_000018.4:c.601_603delinsTAC MANE Select	NP_000009.1:p.Tyr201=
NM_001033859.3:c.535_537delinsTAC	NP_001029031.1:p.Tyr179=
NM_001270447.2:c.670_672delinsTAC	NP_001257376.1:p.Tyr224=
NM_001270448.2:c.373_375delinsTAC	NP_001257377.1:p.Tyr125=