Canonical Allele Identifier: CA2038181033

Gene: PMEL

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55957043_55957046delinsAGTT , CM000674.2:g.55957043_55957046delinsAGTT	GRCh38
NC_000012.11:g.56350827_56350830delinsAGTT , CM000674.1:g.56350827_56350830delinsAGTT	GRCh37
NC_000012.10:g.54637094_54637097delinsAGTT	NCBI36
NG_028086.1:g.14667_14670delinsAACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000548747.6:c.1257_1260delinsAACT MANE Select	ENSP00000448828.1:p.Thr419=
ENST00000449260.6:c.1257_1260delinsAACT	ENSP00000402758.2:p.Thr419=
ENST00000548493.5:c.1257_1260delinsAACT	ENSP00000447374.1:p.Thr419=
ENST00000548747.5:c.1257_1260delinsAACT	ENSP00000448828.1:p.Thr419=
ENST00000548803.5:c.684_687delinsAACT	ENSP00000447732.1:p.Thr228=
ENST00000549404.5:c.793_796delinsAACT
ENST00000549564.1:n.235+62_235+65delinsAACT
ENST00000550447.5:c.359-1183_359-1180delinsAACT	ENSP00000448029.1:n.359-1183_359-1180delinsAACT
ENST00000550464.5:c.999_1002delinsAACT	ENSP00000450036.1:p.Thr333=
ENST00000552882.5:c.1257_1260delinsAACT	ENSP00000449690.1:p.Thr419=
NM_001200053.1:c.999_1002delinsAACT	NP_001186982.1:p.Thr333=
NM_001200054.1:c.1257_1260delinsAACT	NP_001186983.1:p.Thr419=
NM_006928.4:c.1257_1260delinsAACT	NP_008859.1:p.Thr419=
XM_006719569.1:c.1257_1260delinsAACT	XP_006719632.1:p.Thr419=
XM_011538685.1:c.1257_1260delinsAACT	XP_011536987.1:p.Thr419=
XM_011538686.1:c.1131_1134delinsAACT	XP_011536988.1:p.Thr377=
XM_011538687.1:c.1131_1134delinsAACT	XP_011536989.1:p.Thr377=
NM_001320121.1:c.1131_1134delinsAACT	NP_001307050.1:p.Thr377=
NM_001320122.1:c.1131_1134delinsAACT	NP_001307051.1:p.Thr377=
NM_001384361.1:c.1257_1260delinsAACT MANE Select	NP_001371290.1:p.Thr419=
NM_006928.5:c.1257_1260delinsAACT	NP_008859.1:p.Thr419=