Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49061177_49061180delinsCAGG , CM000681.2:g.49061177_49061180delinsCAGG	GRCh38
NC_000019.9:g.49564434_49564437delinsCAGG , CM000681.1:g.49564434_49564437delinsCAGG	GRCh37
NC_000019.8:g.54256246_54256249delinsCAGG	NCBI36
NG_016289.1:g.7688_7691delinsCCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593537.2:c.185_188delinsCCTG MANE Select	ENSP00000469455.1:n.185_188delinsCCTG
ENST00000594938.2:c.185_188delinsCCTG	ENSP00000512387.1:n.185_188delinsCCTG
ENST00000595857.6:c.185_188delinsCCTG	ENSP00000471508.2:n.185_188delinsCCTG
ENST00000696088.1:c.185_188delinsCCTG	ENSP00000512384.1:n.185_188delinsCCTG
ENST00000696089.1:c.185_188delinsCCTG	ENSP00000512385.1:n.185_188delinsCCTG
ENST00000696090.1:c.185_188delinsCCTG	ENSP00000512386.1:n.185_188delinsCCTG
ENST00000696091.1:c.185_188delinsCCTG	ENSP00000512388.1:n.185_188delinsCCTG
ENST00000593537.1:c.818_821delinsCCTG	ENSP00000469455.1:n.818_821delinsCCTG
ENST00000599795.5:c.243+575_243+578delinsCCTG	ENSP00000470689.1:n.243+575_243+578delinsCCTG
NM_006179.4:c.185_188delinsCCTG	NP_006170.1:n.185_188delinsCCTG
XM_005258962.2:c.185_188delinsCCTG	XP_005259019.1:n.185_188delinsCCTG
XM_006723232.2:c.185_188delinsCCTG	XP_006723295.1:n.185_188delinsCCTG
XM_011527008.1:c.185_188delinsCCTG	XP_011525310.1:n.185_188delinsCCTG
XM_011527009.1:c.185_188delinsCCTG	XP_011525311.1:n.185_188delinsCCTG
XM_011527010.1:c.185_188delinsCCTG	XP_011525312.1:n.185_188delinsCCTG
XM_005258962.3:c.185_188delinsCCTG	XP_005259019.1:n.185_188delinsCCTG
XM_006723232.3:c.185_188delinsCCTG	XP_006723295.1:n.185_188delinsCCTG
XM_011527008.2:c.185_188delinsCCTG	XP_011525310.1:n.185_188delinsCCTG
XM_011527009.2:c.185_188delinsCCTG	XP_011525311.1:n.185_188delinsCCTG
XM_011527010.2:c.185_188delinsCCTG	XP_011525312.1:n.185_188delinsCCTG
XR_001753693.1:n.863_866delinsCCTG
XR_001753694.1:n.863_866delinsCCTG
NM_001395489.1:c.185_188delinsCCTG	NP_001382418.1:n.185_188delinsCCTG
NM_006179.5:c.185_188delinsCCTG MANE Select	NP_006170.1:n.185_188delinsCCTG

HGVS	Amino-acid Change
ENST00000593537.2:c.185_188delinsCCTG MANE Select	ENSP00000469455.1:n.185_188delinsCCTG
ENST00000594938.2:c.185_188delinsCCTG	ENSP00000512387.1:n.185_188delinsCCTG
ENST00000595857.6:c.185_188delinsCCTG	ENSP00000471508.2:n.185_188delinsCCTG
ENST00000696088.1:c.185_188delinsCCTG	ENSP00000512384.1:n.185_188delinsCCTG
ENST00000696089.1:c.185_188delinsCCTG	ENSP00000512385.1:n.185_188delinsCCTG
ENST00000696090.1:c.185_188delinsCCTG	ENSP00000512386.1:n.185_188delinsCCTG
ENST00000696091.1:c.185_188delinsCCTG	ENSP00000512388.1:n.185_188delinsCCTG
ENST00000593537.1:c.818_821delinsCCTG	ENSP00000469455.1:n.818_821delinsCCTG
ENST00000599795.5:c.243+575_243+578delinsCCTG	ENSP00000470689.1:n.243+575_243+578delinsCCTG
NM_006179.4:c.185_188delinsCCTG	NP_006170.1:n.185_188delinsCCTG
XM_005258962.2:c.185_188delinsCCTG	XP_005259019.1:n.185_188delinsCCTG
XM_006723232.2:c.185_188delinsCCTG	XP_006723295.1:n.185_188delinsCCTG
XM_011527008.1:c.185_188delinsCCTG	XP_011525310.1:n.185_188delinsCCTG
XM_011527009.1:c.185_188delinsCCTG	XP_011525311.1:n.185_188delinsCCTG
XM_011527010.1:c.185_188delinsCCTG	XP_011525312.1:n.185_188delinsCCTG
XM_005258962.3:c.185_188delinsCCTG	XP_005259019.1:n.185_188delinsCCTG
XM_006723232.3:c.185_188delinsCCTG	XP_006723295.1:n.185_188delinsCCTG
XM_011527008.2:c.185_188delinsCCTG	XP_011525310.1:n.185_188delinsCCTG
XM_011527009.2:c.185_188delinsCCTG	XP_011525311.1:n.185_188delinsCCTG
XM_011527010.2:c.185_188delinsCCTG	XP_011525312.1:n.185_188delinsCCTG
XR_001753693.1:n.863_866delinsCCTG
XR_001753694.1:n.863_866delinsCCTG
NM_001395489.1:c.185_188delinsCCTG	NP_001382418.1:n.185_188delinsCCTG
NM_006179.5:c.185_188delinsCCTG MANE Select	NP_006170.1:n.185_188delinsCCTG