Canonical Allele Identifier: CA2840376182

Gene: PMEL

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55954270dup , CM000674.2:g.55954270dup	GRCh38
NC_000012.11:g.56348054dup , CM000674.1:g.56348054dup	GRCh37
NC_000012.10:g.54634321dup	NCBI36
NG_028086.1:g.17444dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000548747.6:c.1931dup MANE Select	ENSP00000448828.1:p.Cys645LeufsTer7
ENST00000449260.6:c.1952dup	ENSP00000402758.2:p.Cys652LeufsTer7
ENST00000548493.5:c.1931dup	ENSP00000447374.1:p.Cys645LeufsTer7
ENST00000548747.5:c.1931dup	ENSP00000448828.1:p.Cys645LeufsTer7
ENST00000550447.5:c.818dup	ENSP00000448029.1:p.Cys274LeufsTer7
ENST00000550464.5:c.1673dup	ENSP00000450036.1:p.Cys559LeufsTer7
ENST00000552882.5:c.1931dup	ENSP00000449690.1:p.Cys645LeufsTer7
NM_001200053.1:c.1673dup	NP_001186982.1:p.Cys559LeufsTer7
NM_001200054.1:c.1952dup	NP_001186983.1:p.Cys652LeufsTer7
NM_006928.4:c.1931dup	NP_008859.1:p.Cys645LeufsTer7
XM_006719569.1:c.1931dup	XP_006719632.1:p.Cys645LeufsTer7
XM_011538685.1:c.1952dup	XP_011536987.1:p.Cys652LeufsTer7
XM_011538686.1:c.1826dup	XP_011536988.1:p.Cys610LeufsTer7
XM_011538687.1:c.1805dup	XP_011536989.1:p.Cys603LeufsTer7
NM_001320121.1:c.1826dup	NP_001307050.1:p.Cys610LeufsTer7
NM_001320122.1:c.1805dup	NP_001307051.1:p.Cys603LeufsTer7
NM_001384361.1:c.1931dup MANE Select	NP_001371290.1:p.Cys645LeufsTer7
NM_006928.5:c.1931dup	NP_008859.1:p.Cys645LeufsTer7