Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.89725337_89725338insAAATT , CM000666.2:g.89725337_89725338insAAATT	GRCh38
NC_000004.11:g.90646488_90646489insAAATT , CM000666.1:g.90646488_90646489insAAATT	GRCh37
NC_000004.10:g.90865511_90865512insAAATT	NCBI36
NG_011851.1:g.117959_117960insAATTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394991.8:c.1290_1291insAATTT MANE Select	ENSP00000378442.4:n.1290_1291insAATTT
ENST00000673718.1:c.1290_1291insAATTT	ENSP00000500990.1:n.1290_1291insAATTT
ENST00000673766.1:n.1968_1969insAATTT
ENST00000673902.1:c.390+3856_390+3857insAATTT	ENSP00000501102.1:n.390+3856_390+3857insAATTT
ENST00000336904.7:c.1290_1291insAATTT	ENSP00000338345.3:n.1290_1291insAATTT
ENST00000394989.6:c.1290_1291insAATTT	ENSP00000378440.2:n.1290_1291insAATTT
ENST00000420646.6:c.1290_1291insAATTT	ENSP00000396241.2:n.1290_1291insAATTT
ENST00000618500.4:c.1290_1291insAATTT	ENSP00000484044.1:n.1290_1291insAATTT
NM_000345.3:c.1290_1291insAATTT	NP_000336.1:n.1290_1291insAATTT
NM_001146054.1:c.1290_1291insAATTT	NP_001139526.1:n.1290_1291insAATTT
NM_001146055.1:c.1290_1291insAATTT	NP_001139527.1:n.1290_1291insAATTT
NM_007308.2:c.1290_1291insAATTT	NP_009292.1:n.1290_1291insAATTT
NM_000345.4:c.1290_1291insAATTT MANE Select	NP_000336.1:n.1290_1291insAATTT
NM_001146054.2:c.1290_1291insAATTT	NP_001139526.1:n.1290_1291insAATTT
NM_001146055.2:c.1290_1291insAATTT	NP_001139527.1:n.1290_1291insAATTT
NM_001375285.1:c.1290_1291insAATTT	NP_001362214.1:n.1290_1291insAATTT
NM_001375286.1:c.1290_1291insAATTT	NP_001362215.1:n.1290_1291insAATTT
NM_001375287.1:c.1290_1291insAATTT	NP_001362216.1:n.1290_1291insAATTT
NM_001375288.1:c.1290_1291insAATTT	NP_001362217.1:n.1290_1291insAATTT
NM_001375290.1:c.1290_1291insAATTT	NP_001362219.1:n.1290_1291insAATTT
NR_164674.1:n.1277-24_1277-23insAATTT
NR_164675.1:n.1424-24_1424-23insAATTT
NR_164676.1:n.2011_2012insAATTT
NM_007308.3:c.1290_1291insAATTT	NP_009292.1:n.1290_1291insAATTT

HGVS	Amino-acid Change
ENST00000394991.8:c.1290_1291insAATTT MANE Select	ENSP00000378442.4:n.1290_1291insAATTT
ENST00000673718.1:c.1290_1291insAATTT	ENSP00000500990.1:n.1290_1291insAATTT
ENST00000673766.1:n.1968_1969insAATTT
ENST00000673902.1:c.390+3856_390+3857insAATTT	ENSP00000501102.1:n.390+3856_390+3857insAATTT
ENST00000336904.7:c.1290_1291insAATTT	ENSP00000338345.3:n.1290_1291insAATTT
ENST00000394989.6:c.1290_1291insAATTT	ENSP00000378440.2:n.1290_1291insAATTT
ENST00000420646.6:c.1290_1291insAATTT	ENSP00000396241.2:n.1290_1291insAATTT
ENST00000618500.4:c.1290_1291insAATTT	ENSP00000484044.1:n.1290_1291insAATTT
NM_000345.3:c.1290_1291insAATTT	NP_000336.1:n.1290_1291insAATTT
NM_001146054.1:c.1290_1291insAATTT	NP_001139526.1:n.1290_1291insAATTT
NM_001146055.1:c.1290_1291insAATTT	NP_001139527.1:n.1290_1291insAATTT
NM_007308.2:c.1290_1291insAATTT	NP_009292.1:n.1290_1291insAATTT
NM_000345.4:c.1290_1291insAATTT MANE Select	NP_000336.1:n.1290_1291insAATTT
NM_001146054.2:c.1290_1291insAATTT	NP_001139526.1:n.1290_1291insAATTT
NM_001146055.2:c.1290_1291insAATTT	NP_001139527.1:n.1290_1291insAATTT
NM_001375285.1:c.1290_1291insAATTT	NP_001362214.1:n.1290_1291insAATTT
NM_001375286.1:c.1290_1291insAATTT	NP_001362215.1:n.1290_1291insAATTT
NM_001375287.1:c.1290_1291insAATTT	NP_001362216.1:n.1290_1291insAATTT
NM_001375288.1:c.1290_1291insAATTT	NP_001362217.1:n.1290_1291insAATTT
NM_001375290.1:c.1290_1291insAATTT	NP_001362219.1:n.1290_1291insAATTT
NR_164674.1:n.1277-24_1277-23insAATTT
NR_164675.1:n.1424-24_1424-23insAATTT
NR_164676.1:n.2011_2012insAATTT
NM_007308.3:c.1290_1291insAATTT	NP_009292.1:n.1290_1291insAATTT