Canonical Allele Identifier: CA2038177604

Gene: PMEL

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55954302_55954304delinsCTA , CM000674.2:g.55954302_55954304delinsCTA	GRCh38
NC_000012.11:g.56348086_56348088delinsCTA , CM000674.1:g.56348086_56348088delinsCTA	GRCh37
NC_000012.10:g.54634353_54634355delinsCTA	NCBI36
NG_028086.1:g.17409_17411delinsTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000548747.6:c.1896_1898delinsTAG MANE Select	ENSP00000448828.1:p.His632=
ENST00000449260.6:c.1917_1919delinsTAG	ENSP00000402758.2:p.His639=
ENST00000548493.5:c.1896_1898delinsTAG	ENSP00000447374.1:p.His632=
ENST00000548747.5:c.1896_1898delinsTAG	ENSP00000448828.1:p.His632=
ENST00000549564.1:n.475_477delinsTAG
ENST00000550447.5:c.783_785delinsTAG	ENSP00000448029.1:p.His261=
ENST00000550464.5:c.1638_1640delinsTAG	ENSP00000450036.1:p.His546=
ENST00000552882.5:c.1896_1898delinsTAG	ENSP00000449690.1:p.His632=
NM_001200053.1:c.1638_1640delinsTAG	NP_001186982.1:p.His546=
NM_001200054.1:c.1917_1919delinsTAG	NP_001186983.1:p.His639=
NM_006928.4:c.1896_1898delinsTAG	NP_008859.1:p.His632=
XM_006719569.1:c.1896_1898delinsTAG	XP_006719632.1:p.His632=
XM_011538685.1:c.1917_1919delinsTAG	XP_011536987.1:p.His639=
XM_011538686.1:c.1791_1793delinsTAG	XP_011536988.1:p.His597=
XM_011538687.1:c.1770_1772delinsTAG	XP_011536989.1:p.His590=
NM_001320121.1:c.1791_1793delinsTAG	NP_001307050.1:p.His597=
NM_001320122.1:c.1770_1772delinsTAG	NP_001307051.1:p.His590=
NM_001384361.1:c.1896_1898delinsTAG MANE Select	NP_001371290.1:p.His632=
NM_006928.5:c.1896_1898delinsTAG	NP_008859.1:p.His632=