Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.89725533_89725534delinsCA , CM000666.2:g.89725533_89725534delinsCA	GRCh38
NC_000004.11:g.90646684_90646685delinsCA , CM000666.1:g.90646684_90646685delinsCA	GRCh37
NC_000004.10:g.90865707_90865708delinsCA	NCBI36
NG_011851.1:g.117763_117764delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394991.8:c.1094_1095delinsTG MANE Select	ENSP00000378442.4:n.1094_1095delinsTG
ENST00000673718.1:c.1094_1095delinsTG	ENSP00000500990.1:n.1094_1095delinsTG
ENST00000673766.1:n.1772_1773delinsTG
ENST00000673902.1:c.390+3660_390+3661delinsTG	ENSP00000501102.1:n.390+3660_390+3661delinsTG
ENST00000674129.1:c.1094_1095delinsTG	ENSP00000501269.1:n.1094_1095delinsTG
ENST00000336904.7:c.1094_1095delinsTG	ENSP00000338345.3:n.1094_1095delinsTG
ENST00000394989.6:c.1094_1095delinsTG	ENSP00000378440.2:n.1094_1095delinsTG
ENST00000420646.6:c.1094_1095delinsTG	ENSP00000396241.2:n.1094_1095delinsTG
ENST00000618500.4:c.1094_1095delinsTG	ENSP00000484044.1:n.1094_1095delinsTG
NM_000345.3:c.1094_1095delinsTG	NP_000336.1:n.1094_1095delinsTG
NM_001146054.1:c.1094_1095delinsTG	NP_001139526.1:n.1094_1095delinsTG
NM_001146055.1:c.1094_1095delinsTG	NP_001139527.1:n.1094_1095delinsTG
NM_007308.2:c.1094_1095delinsTG	NP_009292.1:n.1094_1095delinsTG
XM_011532208.1:c.1094_1095delinsTG	XP_011530510.1:n.1094_1095delinsTG
XM_011532208.2:c.1094_1095delinsTG	XP_011530510.1:n.1094_1095delinsTG
XM_017008562.1:c.1094_1095delinsTG	XP_016864051.1:n.1094_1095delinsTG
XM_017008563.1:c.1094_1095delinsTG	XP_016864052.1:n.1094_1095delinsTG
NM_000345.4:c.1094_1095delinsTG MANE Select	NP_000336.1:n.1094_1095delinsTG
NM_001146054.2:c.1094_1095delinsTG	NP_001139526.1:n.1094_1095delinsTG
NM_001146055.2:c.1094_1095delinsTG	NP_001139527.1:n.1094_1095delinsTG
NM_001375285.1:c.1094_1095delinsTG	NP_001362214.1:n.1094_1095delinsTG
NM_001375286.1:c.1094_1095delinsTG	NP_001362215.1:n.1094_1095delinsTG
NM_001375287.1:c.1094_1095delinsTG	NP_001362216.1:n.1094_1095delinsTG
NM_001375288.1:c.1094_1095delinsTG	NP_001362217.1:n.1094_1095delinsTG
NM_001375290.1:c.1094_1095delinsTG	NP_001362219.1:n.1094_1095delinsTG
NR_164674.1:n.1277-220_1277-219delinsTG
NR_164675.1:n.1424-220_1424-219delinsTG
NR_164676.1:n.1815_1816delinsTG
NM_007308.3:c.1094_1095delinsTG	NP_009292.1:n.1094_1095delinsTG

HGVS	Amino-acid Change
ENST00000394991.8:c.1094_1095delinsTG MANE Select	ENSP00000378442.4:n.1094_1095delinsTG
ENST00000673718.1:c.1094_1095delinsTG	ENSP00000500990.1:n.1094_1095delinsTG
ENST00000673766.1:n.1772_1773delinsTG
ENST00000673902.1:c.390+3660_390+3661delinsTG	ENSP00000501102.1:n.390+3660_390+3661delinsTG
ENST00000674129.1:c.1094_1095delinsTG	ENSP00000501269.1:n.1094_1095delinsTG
ENST00000336904.7:c.1094_1095delinsTG	ENSP00000338345.3:n.1094_1095delinsTG
ENST00000394989.6:c.1094_1095delinsTG	ENSP00000378440.2:n.1094_1095delinsTG
ENST00000420646.6:c.1094_1095delinsTG	ENSP00000396241.2:n.1094_1095delinsTG
ENST00000618500.4:c.1094_1095delinsTG	ENSP00000484044.1:n.1094_1095delinsTG
NM_000345.3:c.1094_1095delinsTG	NP_000336.1:n.1094_1095delinsTG
NM_001146054.1:c.1094_1095delinsTG	NP_001139526.1:n.1094_1095delinsTG
NM_001146055.1:c.1094_1095delinsTG	NP_001139527.1:n.1094_1095delinsTG
NM_007308.2:c.1094_1095delinsTG	NP_009292.1:n.1094_1095delinsTG
XM_011532208.1:c.1094_1095delinsTG	XP_011530510.1:n.1094_1095delinsTG
XM_011532208.2:c.1094_1095delinsTG	XP_011530510.1:n.1094_1095delinsTG
XM_017008562.1:c.1094_1095delinsTG	XP_016864051.1:n.1094_1095delinsTG
XM_017008563.1:c.1094_1095delinsTG	XP_016864052.1:n.1094_1095delinsTG
NM_000345.4:c.1094_1095delinsTG MANE Select	NP_000336.1:n.1094_1095delinsTG
NM_001146054.2:c.1094_1095delinsTG	NP_001139526.1:n.1094_1095delinsTG
NM_001146055.2:c.1094_1095delinsTG	NP_001139527.1:n.1094_1095delinsTG
NM_001375285.1:c.1094_1095delinsTG	NP_001362214.1:n.1094_1095delinsTG
NM_001375286.1:c.1094_1095delinsTG	NP_001362215.1:n.1094_1095delinsTG
NM_001375287.1:c.1094_1095delinsTG	NP_001362216.1:n.1094_1095delinsTG
NM_001375288.1:c.1094_1095delinsTG	NP_001362217.1:n.1094_1095delinsTG
NM_001375290.1:c.1094_1095delinsTG	NP_001362219.1:n.1094_1095delinsTG
NR_164674.1:n.1277-220_1277-219delinsTG
NR_164675.1:n.1424-220_1424-219delinsTG
NR_164676.1:n.1815_1816delinsTG
NM_007308.3:c.1094_1095delinsTG	NP_009292.1:n.1094_1095delinsTG