Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108620134_108620135insCC , CM000685.2:g.108620134_108620135insCC	GRCh38
NC_000023.10:g.107863364_107863365insCC , CM000685.1:g.107863364_107863365insCC	GRCh37
NC_000023.9:g.107750020_107750021insCC	NCBI36
NG_011977.1:g.185211_185212insCC
NG_011977.2:g.185211_185212insCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.2510-125_2510-124insCC MANE Select	ENSP00000331902.7:n.2510-125_2510-124insCC
ENST00000361603.7:c.2510-125_2510-124insCC	ENSP00000354505.2:n.2510-125_2510-124insCC
ENST00000328300.10:c.2510-125_2510-124insCC	ENSP00000331902.6:n.2510-125_2510-124insCC
ENST00000361603.6:c.2510-125_2510-124insCC	ENSP00000354505.2:n.2510-125_2510-124insCC
ENST00000483338.1:n.1966-125_1966-124insCC
NM_000495.4:c.2510-125_2510-124insCC	NP_000486.1:n.2510-125_2510-124insCC
NM_033380.2:c.2510-125_2510-124insCC	NP_203699.1:n.2510-125_2510-124insCC
XM_005262070.2:c.2510-125_2510-124insCC	XP_005262127.1:n.2510-125_2510-124insCC
XM_005262072.3:c.2510-125_2510-124insCC	XP_005262129.1:n.2510-125_2510-124insCC
XM_006724616.2:c.2510-125_2510-124insCC	XP_006724679.1:n.2510-125_2510-124insCC
XM_011530849.1:c.2186-125_2186-124insCC	XP_011529151.1:n.2186-125_2186-124insCC
XM_011530850.1:c.2510-125_2510-124insCC	XP_011529152.1:n.2510-125_2510-124insCC
XM_011530851.1:c.83-125_83-124insCC	XP_011529153.1:n.83-125_83-124insCC
XM_011530849.2:c.2525-125_2525-124insCC	XP_011529151.2:n.2525-125_2525-124insCC
XM_017029259.2:c.2525-125_2525-124insCC	XP_016884748.1:n.2525-125_2525-124insCC
XM_017029260.1:c.2525-125_2525-124insCC	XP_016884749.1:n.2525-125_2525-124insCC
XM_017029261.1:c.2525-125_2525-124insCC	XP_016884750.1:n.2525-125_2525-124insCC
XM_017029262.2:c.2525-125_2525-124insCC	XP_016884751.1:n.2525-125_2525-124insCC
XM_017029263.2:c.845-125_845-124insCC	XP_016884752.1:n.845-125_845-124insCC
NM_000495.5:c.2510-125_2510-124insCC	NP_000486.1:n.2510-125_2510-124insCC
NM_033380.3:c.2510-125_2510-124insCC MANE Select	NP_203699.1:n.2510-125_2510-124insCC