Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29694881_29694883delinsATC , CM000684.2:g.29694881_29694883delinsATC	GRCh38
NC_000022.10:g.30090870_30090872delinsATC , CM000684.1:g.30090870_30090872delinsATC	GRCh37
NC_000022.9:g.28420870_28420872delinsATC	NCBI36
NG_009057.1:g.96326_96328delinsATC , LRG_511:g.96326_96328delinsATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.79_81delinsATC	ENSP00000354529.6:n.79_81delinsATC
ENST00000673312.2:c.1361_1363delinsATC	ENSP00000500186.2:n.1361_1363delinsATC
ENST00000338641.10:c.79_81delinsATC MANE Select	ENSP00000344666.5:n.79_81delinsATC
ENST00000361166.9:c.1285_1287delinsATC	ENSP00000354529.5:n.1285_1287delinsATC
ENST00000672461.1:c.139_141delinsATC	ENSP00000500919.1:n.139_141delinsATC
ENST00000672805.1:c.1749_1751delinsATC	ENSP00000500295.1:n.1749_1751delinsATC
ENST00000672896.1:c.139_141delinsATC	ENSP00000500117.1:n.139_141delinsATC
ENST00000673312.1:c.1886_1888delinsATC	ENSP00000500186.1:n.1886_1888delinsATC
ENST00000338641.8:c.79_81delinsATC	ENSP00000344666.4:n.79_81delinsATC
ENST00000361452.8:c.139_141delinsATC	ENSP00000354897.4:n.139_141delinsATC
ENST00000413209.6:c.79_81delinsATC	ENSP00000409921.2:n.79_81delinsATC
ENST00000432151.5:c.223_225delinsATC	ENSP00000395885.1:n.223_225delinsATC
NM_000268.3:c.79_81delinsATC , LRG_511t1:c.79_81delinsATC	NP_000259.1:n.79_81delinsATC
NM_016418.5:c.139_141delinsATC , LRG_511t2:c.139_141delinsATC	NP_057502.2:n.139_141delinsATC
NM_181828.2:c.139_141delinsATC	NP_861966.1:n.139_141delinsATC
NM_181829.2:c.139_141delinsATC	NP_861967.1:n.139_141delinsATC
NM_181830.2:c.139_141delinsATC	NP_861968.1:n.139_141delinsATC
NM_181832.2:c.154_156delinsATC	NP_861970.1:n.154_156delinsATC
NM_181833.2:c.79_81delinsATC	NP_861971.1:n.79_81delinsATC
NR_156186.1:n.2426_2428delinsATC
XM_017028809.2:c.79_81delinsATC	XP_016884298.1:n.79_81delinsATC
XM_017028810.1:c.139_141delinsATC	XP_016884299.1:n.139_141delinsATC
NM_000268.4:c.79_81delinsATC MANE Select	NP_000259.1:n.79_81delinsATC
NM_181828.3:c.139_141delinsATC	NP_861966.1:n.139_141delinsATC
NM_181829.3:c.139_141delinsATC	NP_861967.1:n.139_141delinsATC
NM_181830.3:c.139_141delinsATC	NP_861968.1:n.139_141delinsATC
NM_181832.3:c.154_156delinsATC	NP_861970.1:n.154_156delinsATC
NR_156186.2:n.2349_2351delinsATC
NM_181833.3:c.79_81delinsATC	NP_861971.1:n.79_81delinsATC

HGVS	Amino-acid Change
ENST00000361166.10:c.79_81delinsATC	ENSP00000354529.6:n.79_81delinsATC
ENST00000673312.2:c.1361_1363delinsATC	ENSP00000500186.2:n.1361_1363delinsATC
ENST00000338641.10:c.79_81delinsATC MANE Select	ENSP00000344666.5:n.79_81delinsATC
ENST00000361166.9:c.1285_1287delinsATC	ENSP00000354529.5:n.1285_1287delinsATC
ENST00000672461.1:c.139_141delinsATC	ENSP00000500919.1:n.139_141delinsATC
ENST00000672805.1:c.1749_1751delinsATC	ENSP00000500295.1:n.1749_1751delinsATC
ENST00000672896.1:c.139_141delinsATC	ENSP00000500117.1:n.139_141delinsATC
ENST00000673312.1:c.1886_1888delinsATC	ENSP00000500186.1:n.1886_1888delinsATC
ENST00000338641.8:c.79_81delinsATC	ENSP00000344666.4:n.79_81delinsATC
ENST00000361452.8:c.139_141delinsATC	ENSP00000354897.4:n.139_141delinsATC
ENST00000413209.6:c.79_81delinsATC	ENSP00000409921.2:n.79_81delinsATC
ENST00000432151.5:c.223_225delinsATC	ENSP00000395885.1:n.223_225delinsATC
NM_000268.3:c.79_81delinsATC , LRG_511t1:c.79_81delinsATC	NP_000259.1:n.79_81delinsATC
NM_016418.5:c.139_141delinsATC , LRG_511t2:c.139_141delinsATC	NP_057502.2:n.139_141delinsATC
NM_181828.2:c.139_141delinsATC	NP_861966.1:n.139_141delinsATC
NM_181829.2:c.139_141delinsATC	NP_861967.1:n.139_141delinsATC
NM_181830.2:c.139_141delinsATC	NP_861968.1:n.139_141delinsATC
NM_181832.2:c.154_156delinsATC	NP_861970.1:n.154_156delinsATC
NM_181833.2:c.79_81delinsATC	NP_861971.1:n.79_81delinsATC
NR_156186.1:n.2426_2428delinsATC
XM_017028809.2:c.79_81delinsATC	XP_016884298.1:n.79_81delinsATC
XM_017028810.1:c.139_141delinsATC	XP_016884299.1:n.139_141delinsATC
NM_000268.4:c.79_81delinsATC MANE Select	NP_000259.1:n.79_81delinsATC
NM_181828.3:c.139_141delinsATC	NP_861966.1:n.139_141delinsATC
NM_181829.3:c.139_141delinsATC	NP_861967.1:n.139_141delinsATC
NM_181830.3:c.139_141delinsATC	NP_861968.1:n.139_141delinsATC
NM_181832.3:c.154_156delinsATC	NP_861970.1:n.154_156delinsATC
NR_156186.2:n.2349_2351delinsATC
NM_181833.3:c.79_81delinsATC	NP_861971.1:n.79_81delinsATC