Canonical Allele Identifier: CA2038177589

Gene: PMEL

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55954295_55954301delinsACTGCTG , CM000674.2:g.55954295_55954301delinsACTGCTG	GRCh38
NC_000012.11:g.56348079_56348085delinsACTGCTG , CM000674.1:g.56348079_56348085delinsACTGCTG	GRCh37
NC_000012.10:g.54634346_54634352delinsACTGCTG	NCBI36
NG_028086.1:g.17412_17418delinsCAGCAGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000548747.6:c.1899_1905delinsCAGCAGT MANE Select	ENSP00000448828.1:p.Ser633=
ENST00000449260.6:c.1920_1926delinsCAGCAGT	ENSP00000402758.2:p.Ser640=
ENST00000548493.5:c.1899_1905delinsCAGCAGT	ENSP00000447374.1:p.Ser633=
ENST00000548747.5:c.1899_1905delinsCAGCAGT	ENSP00000448828.1:p.Ser633=
ENST00000549564.1:n.478_484delinsCAGCAGT
ENST00000550447.5:c.786_792delinsCAGCAGT	ENSP00000448029.1:p.Ser262=
ENST00000550464.5:c.1641_1647delinsCAGCAGT	ENSP00000450036.1:p.Ser547=
ENST00000552882.5:c.1899_1905delinsCAGCAGT	ENSP00000449690.1:p.Ser633=
NM_001200053.1:c.1641_1647delinsCAGCAGT	NP_001186982.1:p.Ser547=
NM_001200054.1:c.1920_1926delinsCAGCAGT	NP_001186983.1:p.Ser640=
NM_006928.4:c.1899_1905delinsCAGCAGT	NP_008859.1:p.Ser633=
XM_006719569.1:c.1899_1905delinsCAGCAGT	XP_006719632.1:p.Ser633=
XM_011538685.1:c.1920_1926delinsCAGCAGT	XP_011536987.1:p.Ser640=
XM_011538686.1:c.1794_1800delinsCAGCAGT	XP_011536988.1:p.Ser598=
XM_011538687.1:c.1773_1779delinsCAGCAGT	XP_011536989.1:p.Ser591=
NM_001320121.1:c.1794_1800delinsCAGCAGT	NP_001307050.1:p.Ser598=
NM_001320122.1:c.1773_1779delinsCAGCAGT	NP_001307051.1:p.Ser591=
NM_001384361.1:c.1899_1905delinsCAGCAGT MANE Select	NP_001371290.1:p.Ser633=
NM_006928.5:c.1899_1905delinsCAGCAGT	NP_008859.1:p.Ser633=