Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108621950_108621951insAGA , CM000685.2:g.108621950_108621951insAGA	GRCh38
NC_000023.10:g.107865180_107865181insAGA , CM000685.1:g.107865180_107865181insAGA	GRCh37
NC_000023.9:g.107751836_107751837insAGA	NCBI36
NG_011977.1:g.187027_187028insAGA
NG_011977.2:g.187027_187028insAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.2767+58_2767+59insAGA MANE Select	ENSP00000331902.7:n.2767+58_2767+59insAGA
ENST00000361603.7:c.2767+58_2767+59insAGA	ENSP00000354505.2:n.2767+58_2767+59insAGA
ENST00000328300.10:c.2767+58_2767+59insAGA	ENSP00000331902.6:n.2767+58_2767+59insAGA
ENST00000361603.6:c.2767+58_2767+59insAGA	ENSP00000354505.2:n.2767+58_2767+59insAGA
ENST00000483338.1:n.2223+58_2223+59insAGA
NM_000495.4:c.2767+58_2767+59insAGA	NP_000486.1:n.2767+58_2767+59insAGA
NM_033380.2:c.2767+58_2767+59insAGA	NP_203699.1:n.2767+58_2767+59insAGA
XM_005262070.2:c.2767+58_2767+59insAGA	XP_005262127.1:n.2767+58_2767+59insAGA
XM_005262072.3:c.2767+58_2767+59insAGA	XP_005262129.1:n.2767+58_2767+59insAGA
XM_006724616.2:c.2767+58_2767+59insAGA	XP_006724679.1:n.2767+58_2767+59insAGA
XM_011530849.1:c.2443+58_2443+59insAGA	XP_011529151.1:n.2443+58_2443+59insAGA
XM_011530850.1:c.2767+58_2767+59insAGA	XP_011529152.1:n.2767+58_2767+59insAGA
XM_011530851.1:c.340+58_340+59insAGA	XP_011529153.1:n.340+58_340+59insAGA
XM_011530849.2:c.2782+58_2782+59insAGA	XP_011529151.2:n.2782+58_2782+59insAGA
XM_017029259.2:c.2782+58_2782+59insAGA	XP_016884748.1:n.2782+58_2782+59insAGA
XM_017029260.1:c.2782+58_2782+59insAGA	XP_016884749.1:n.2782+58_2782+59insAGA
XM_017029261.1:c.2782+58_2782+59insAGA	XP_016884750.1:n.2782+58_2782+59insAGA
XM_017029262.2:c.2782+58_2782+59insAGA	XP_016884751.1:n.2782+58_2782+59insAGA
XM_017029263.2:c.1102+58_1102+59insAGA	XP_016884752.1:n.1102+58_1102+59insAGA
NM_000495.5:c.2767+58_2767+59insAGA	NP_000486.1:n.2767+58_2767+59insAGA
NM_033380.3:c.2767+58_2767+59insAGA MANE Select	NP_203699.1:n.2767+58_2767+59insAGA