Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.89725665_89725666delinsTA , CM000666.2:g.89725665_89725666delinsTA	GRCh38
NC_000004.11:g.90646816_90646817delinsTA , CM000666.1:g.90646816_90646817delinsTA	GRCh37
NC_000004.10:g.90865839_90865840delinsTA	NCBI36
NG_011851.1:g.117631_117632delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394991.8:c.962_963delinsTA MANE Select	ENSP00000378442.4:n.962_963delinsTA
ENST00000673718.1:c.962_963delinsTA	ENSP00000500990.1:n.962_963delinsTA
ENST00000673766.1:n.1640_1641delinsTA
ENST00000673902.1:c.390+3528_390+3529delinsTA	ENSP00000501102.1:n.390+3528_390+3529delinsTA
ENST00000674129.1:c.962_963delinsTA	ENSP00000501269.1:n.962_963delinsTA
ENST00000336904.7:c.962_963delinsTA	ENSP00000338345.3:n.962_963delinsTA
ENST00000394989.6:c.962_963delinsTA	ENSP00000378440.2:n.962_963delinsTA
ENST00000420646.6:c.962_963delinsTA	ENSP00000396241.2:n.962_963delinsTA
ENST00000618500.4:c.962_963delinsTA	ENSP00000484044.1:n.962_963delinsTA
NM_000345.3:c.962_963delinsTA	NP_000336.1:n.962_963delinsTA
NM_001146054.1:c.962_963delinsTA	NP_001139526.1:n.962_963delinsTA
NM_001146055.1:c.962_963delinsTA	NP_001139527.1:n.962_963delinsTA
NM_007308.2:c.962_963delinsTA	NP_009292.1:n.962_963delinsTA
XM_011532208.1:c.962_963delinsTA	XP_011530510.1:n.962_963delinsTA
XM_011532208.2:c.962_963delinsTA	XP_011530510.1:n.962_963delinsTA
XM_017008562.1:c.962_963delinsTA	XP_016864051.1:n.962_963delinsTA
XM_017008563.1:c.962_963delinsTA	XP_016864052.1:n.962_963delinsTA
NM_000345.4:c.962_963delinsTA MANE Select	NP_000336.1:n.962_963delinsTA
NM_001146054.2:c.962_963delinsTA	NP_001139526.1:n.962_963delinsTA
NM_001146055.2:c.962_963delinsTA	NP_001139527.1:n.962_963delinsTA
NM_001375285.1:c.962_963delinsTA	NP_001362214.1:n.962_963delinsTA
NM_001375286.1:c.962_963delinsTA	NP_001362215.1:n.962_963delinsTA
NM_001375287.1:c.962_963delinsTA	NP_001362216.1:n.962_963delinsTA
NM_001375288.1:c.962_963delinsTA	NP_001362217.1:n.962_963delinsTA
NM_001375290.1:c.962_963delinsTA	NP_001362219.1:n.962_963delinsTA
NR_164674.1:n.1276+187_1276+188delinsTA
NR_164675.1:n.1423+187_1423+188delinsTA
NR_164676.1:n.1683_1684delinsTA
NM_007308.3:c.962_963delinsTA	NP_009292.1:n.962_963delinsTA

HGVS	Amino-acid Change
ENST00000394991.8:c.962_963delinsTA MANE Select	ENSP00000378442.4:n.962_963delinsTA
ENST00000673718.1:c.962_963delinsTA	ENSP00000500990.1:n.962_963delinsTA
ENST00000673766.1:n.1640_1641delinsTA
ENST00000673902.1:c.390+3528_390+3529delinsTA	ENSP00000501102.1:n.390+3528_390+3529delinsTA
ENST00000674129.1:c.962_963delinsTA	ENSP00000501269.1:n.962_963delinsTA
ENST00000336904.7:c.962_963delinsTA	ENSP00000338345.3:n.962_963delinsTA
ENST00000394989.6:c.962_963delinsTA	ENSP00000378440.2:n.962_963delinsTA
ENST00000420646.6:c.962_963delinsTA	ENSP00000396241.2:n.962_963delinsTA
ENST00000618500.4:c.962_963delinsTA	ENSP00000484044.1:n.962_963delinsTA
NM_000345.3:c.962_963delinsTA	NP_000336.1:n.962_963delinsTA
NM_001146054.1:c.962_963delinsTA	NP_001139526.1:n.962_963delinsTA
NM_001146055.1:c.962_963delinsTA	NP_001139527.1:n.962_963delinsTA
NM_007308.2:c.962_963delinsTA	NP_009292.1:n.962_963delinsTA
XM_011532208.1:c.962_963delinsTA	XP_011530510.1:n.962_963delinsTA
XM_011532208.2:c.962_963delinsTA	XP_011530510.1:n.962_963delinsTA
XM_017008562.1:c.962_963delinsTA	XP_016864051.1:n.962_963delinsTA
XM_017008563.1:c.962_963delinsTA	XP_016864052.1:n.962_963delinsTA
NM_000345.4:c.962_963delinsTA MANE Select	NP_000336.1:n.962_963delinsTA
NM_001146054.2:c.962_963delinsTA	NP_001139526.1:n.962_963delinsTA
NM_001146055.2:c.962_963delinsTA	NP_001139527.1:n.962_963delinsTA
NM_001375285.1:c.962_963delinsTA	NP_001362214.1:n.962_963delinsTA
NM_001375286.1:c.962_963delinsTA	NP_001362215.1:n.962_963delinsTA
NM_001375287.1:c.962_963delinsTA	NP_001362216.1:n.962_963delinsTA
NM_001375288.1:c.962_963delinsTA	NP_001362217.1:n.962_963delinsTA
NM_001375290.1:c.962_963delinsTA	NP_001362219.1:n.962_963delinsTA
NR_164674.1:n.1276+187_1276+188delinsTA
NR_164675.1:n.1423+187_1423+188delinsTA
NR_164676.1:n.1683_1684delinsTA
NM_007308.3:c.962_963delinsTA	NP_009292.1:n.962_963delinsTA