Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.89725339_89725341delinsAGC , CM000666.2:g.89725339_89725341delinsAGC	GRCh38
NC_000004.11:g.90646490_90646492delinsAGC , CM000666.1:g.90646490_90646492delinsAGC	GRCh37
NC_000004.10:g.90865513_90865515delinsAGC	NCBI36
NG_011851.1:g.117956_117958delinsGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394991.8:c.1287_1289delinsGCT MANE Select	ENSP00000378442.4:n.1287_1289delinsGCT
ENST00000673718.1:c.1287_1289delinsGCT	ENSP00000500990.1:n.1287_1289delinsGCT
ENST00000673766.1:n.1965_1967delinsGCT
ENST00000673902.1:c.390+3853_390+3855delinsGCT	ENSP00000501102.1:n.390+3853_390+3855delinsGCT
ENST00000336904.7:c.1287_1289delinsGCT	ENSP00000338345.3:n.1287_1289delinsGCT
ENST00000394989.6:c.1287_1289delinsGCT	ENSP00000378440.2:n.1287_1289delinsGCT
ENST00000420646.6:c.1287_1289delinsGCT	ENSP00000396241.2:n.1287_1289delinsGCT
ENST00000618500.4:c.1287_1289delinsGCT	ENSP00000484044.1:n.1287_1289delinsGCT
NM_000345.3:c.1287_1289delinsGCT	NP_000336.1:n.1287_1289delinsGCT
NM_001146054.1:c.1287_1289delinsGCT	NP_001139526.1:n.1287_1289delinsGCT
NM_001146055.1:c.1287_1289delinsGCT	NP_001139527.1:n.1287_1289delinsGCT
NM_007308.2:c.1287_1289delinsGCT	NP_009292.1:n.1287_1289delinsGCT
NM_000345.4:c.1287_1289delinsGCT MANE Select	NP_000336.1:n.1287_1289delinsGCT
NM_001146054.2:c.1287_1289delinsGCT	NP_001139526.1:n.1287_1289delinsGCT
NM_001146055.2:c.1287_1289delinsGCT	NP_001139527.1:n.1287_1289delinsGCT
NM_001375285.1:c.1287_1289delinsGCT	NP_001362214.1:n.1287_1289delinsGCT
NM_001375286.1:c.1287_1289delinsGCT	NP_001362215.1:n.1287_1289delinsGCT
NM_001375287.1:c.1287_1289delinsGCT	NP_001362216.1:n.1287_1289delinsGCT
NM_001375288.1:c.1287_1289delinsGCT	NP_001362217.1:n.1287_1289delinsGCT
NM_001375290.1:c.1287_1289delinsGCT	NP_001362219.1:n.1287_1289delinsGCT
NR_164674.1:n.1277-27_1277-25delinsGCT
NR_164675.1:n.1424-27_1424-25delinsGCT
NR_164676.1:n.2008_2010delinsGCT
NM_007308.3:c.1287_1289delinsGCT	NP_009292.1:n.1287_1289delinsGCT

HGVS	Amino-acid Change
ENST00000394991.8:c.1287_1289delinsGCT MANE Select	ENSP00000378442.4:n.1287_1289delinsGCT
ENST00000673718.1:c.1287_1289delinsGCT	ENSP00000500990.1:n.1287_1289delinsGCT
ENST00000673766.1:n.1965_1967delinsGCT
ENST00000673902.1:c.390+3853_390+3855delinsGCT	ENSP00000501102.1:n.390+3853_390+3855delinsGCT
ENST00000336904.7:c.1287_1289delinsGCT	ENSP00000338345.3:n.1287_1289delinsGCT
ENST00000394989.6:c.1287_1289delinsGCT	ENSP00000378440.2:n.1287_1289delinsGCT
ENST00000420646.6:c.1287_1289delinsGCT	ENSP00000396241.2:n.1287_1289delinsGCT
ENST00000618500.4:c.1287_1289delinsGCT	ENSP00000484044.1:n.1287_1289delinsGCT
NM_000345.3:c.1287_1289delinsGCT	NP_000336.1:n.1287_1289delinsGCT
NM_001146054.1:c.1287_1289delinsGCT	NP_001139526.1:n.1287_1289delinsGCT
NM_001146055.1:c.1287_1289delinsGCT	NP_001139527.1:n.1287_1289delinsGCT
NM_007308.2:c.1287_1289delinsGCT	NP_009292.1:n.1287_1289delinsGCT
NM_000345.4:c.1287_1289delinsGCT MANE Select	NP_000336.1:n.1287_1289delinsGCT
NM_001146054.2:c.1287_1289delinsGCT	NP_001139526.1:n.1287_1289delinsGCT
NM_001146055.2:c.1287_1289delinsGCT	NP_001139527.1:n.1287_1289delinsGCT
NM_001375285.1:c.1287_1289delinsGCT	NP_001362214.1:n.1287_1289delinsGCT
NM_001375286.1:c.1287_1289delinsGCT	NP_001362215.1:n.1287_1289delinsGCT
NM_001375287.1:c.1287_1289delinsGCT	NP_001362216.1:n.1287_1289delinsGCT
NM_001375288.1:c.1287_1289delinsGCT	NP_001362217.1:n.1287_1289delinsGCT
NM_001375290.1:c.1287_1289delinsGCT	NP_001362219.1:n.1287_1289delinsGCT
NR_164674.1:n.1277-27_1277-25delinsGCT
NR_164675.1:n.1424-27_1424-25delinsGCT
NR_164676.1:n.2008_2010delinsGCT
NM_007308.3:c.1287_1289delinsGCT	NP_009292.1:n.1287_1289delinsGCT