Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221662_7221663delinsAC , CM000679.2:g.7221662_7221663delinsAC	GRCh38
NC_000017.10:g.7124981_7124982delinsAC , CM000679.1:g.7124981_7124982delinsAC	GRCh37
NC_000017.9:g.7065705_7065706delinsAC	NCBI36
NG_007975.1:g.6829_6830delinsAC
NG_008391.2:g.3388_3389delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.602_603delinsAC MANE Select	ENSP00000349297.5:p.Tyr201=
ENST00000322910.9:c.557_558delinsAC	ENSP00000325395.5:n.557_558delinsAC
ENST00000350303.9:c.536_537delinsAC	ENSP00000344152.5:p.Tyr179=
ENST00000356839.9:c.602_603delinsAC	ENSP00000349297.5:p.Tyr201=
ENST00000543245.6:c.671_672delinsAC	ENSP00000438689.2:p.Tyr224=
ENST00000577191.5:n.679_680delinsAC
ENST00000577857.5:n.418_419delinsAC
ENST00000579286.5:n.783_784delinsAC
ENST00000579886.2:c.440_441delinsAC	ENSP00000463246.1:p.Tyr147=
ENST00000580365.1:n.333_334delinsAC
ENST00000581378.5:c.320_321delinsAC
ENST00000581562.5:n.525-290_525-289delinsAC
ENST00000583312.5:c.602_603delinsAC	ENSP00000467920.1:p.Tyr201=
ENST00000583760.1:n.384_385delinsAC
NM_000018.3:c.602_603delinsAC	NP_000009.1:p.Tyr201=
NM_001033859.2:c.536_537delinsAC	NP_001029031.1:p.Tyr179=
NM_001270447.1:c.671_672delinsAC	NP_001257376.1:p.Tyr224=
NM_001270448.1:c.374_375delinsAC	NP_001257377.1:p.Tyr125=
XM_006721516.2:c.602_603delinsAC	XP_006721579.2:p.Tyr201=
XM_011523829.1:c.602_603delinsAC	XP_011522131.1:p.Tyr201=
XM_011523830.1:c.602_603delinsAC	XP_011522132.1:p.Tyr201=
XR_934021.1:n.709_710delinsAC
XR_934022.1:n.709_710delinsAC
XR_934023.1:n.709_710delinsAC
XM_006721516.3:c.602_603delinsAC	XP_006721579.2:p.Tyr201=
XM_011523829.2:c.602_603delinsAC	XP_011522131.1:p.Tyr201=
XM_011523830.2:c.602_603delinsAC	XP_011522132.1:p.Tyr201=
XM_024450741.1:c.602_603delinsAC	XP_024306509.1:p.Tyr201=
XR_934021.2:n.661_662delinsAC
XR_934022.2:n.661_662delinsAC
XR_934023.2:n.661_662delinsAC
NM_000018.4:c.602_603delinsAC MANE Select	NP_000009.1:p.Tyr201=
NM_001033859.3:c.536_537delinsAC	NP_001029031.1:p.Tyr179=
NM_001270447.2:c.671_672delinsAC	NP_001257376.1:p.Tyr224=
NM_001270448.2:c.374_375delinsAC	NP_001257377.1:p.Tyr125=