Canonical Allele Identifier: CA2619237850

Gene: PMEL

Linked Data

• gnomAD v4: 12-55954250-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55954252del , CM000674.2:g.55954252del	GRCh38
NC_000012.11:g.56348036del , CM000674.1:g.56348036del	GRCh37
NC_000012.10:g.54634303del	NCBI36
NG_028086.1:g.17462del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000548747.6:c.1949del MANE Select	ENSP00000448828.1:p.Gly650ValfsTer20
ENST00000449260.6:c.1970del	ENSP00000402758.2:p.Gly657ValfsTer20
ENST00000548493.5:c.1949del	ENSP00000447374.1:p.Gly650ValfsTer20
ENST00000548747.5:c.1949del	ENSP00000448828.1:p.Gly650ValfsTer20
ENST00000550447.5:c.836del	ENSP00000448029.1:p.Gly279ValfsTer?
ENST00000550464.5:c.1691del	ENSP00000450036.1:p.Gly564ValfsTer20
ENST00000552882.5:c.1949del	ENSP00000449690.1:p.Gly650ValfsTer20
NM_001200053.1:c.1691del	NP_001186982.1:p.Gly564ValfsTer20
NM_001200054.1:c.1970del	NP_001186983.1:p.Gly657ValfsTer20
NM_006928.4:c.1949del	NP_008859.1:p.Gly650ValfsTer20
XM_006719569.1:c.1949del	XP_006719632.1:p.Gly650ValfsTer20
XM_011538685.1:c.1970del	XP_011536987.1:p.Gly657ValfsTer20
XM_011538686.1:c.1844del	XP_011536988.1:p.Gly615ValfsTer20
XM_011538687.1:c.1823del	XP_011536989.1:p.Gly608ValfsTer20
NM_001320121.1:c.1844del	NP_001307050.1:p.Gly615ValfsTer20
NM_001320122.1:c.1823del	NP_001307051.1:p.Gly608ValfsTer20
NM_001384361.1:c.1949del MANE Select	NP_001371290.1:p.Gly650ValfsTer20
NM_006928.5:c.1949del	NP_008859.1:p.Gly650ValfsTer20