Canonical Allele Identifier: CA2619237879

Gene: PMEL

Linked Data

• gnomAD v4: 12-55954263-GAGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55954266_55954268del , CM000674.2:g.55954266_55954268del	GRCh38
NC_000012.11:g.56348050_56348052del , CM000674.1:g.56348050_56348052del	GRCh37
NC_000012.10:g.54634317_54634319del	NCBI36
NG_028086.1:g.17447_17449del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000548747.6:c.1934_1936del MANE Select	ENSP00000448828.1:p.Cys645del
ENST00000449260.6:c.1955_1957del	ENSP00000402758.2:p.Cys652del
ENST00000548493.5:c.1934_1936del	ENSP00000447374.1:p.Cys645del
ENST00000548747.5:c.1934_1936del	ENSP00000448828.1:p.Cys645del
ENST00000550447.5:c.821_823del	ENSP00000448029.1:p.Cys274del
ENST00000550464.5:c.1676_1678del	ENSP00000450036.1:p.Cys559del
ENST00000552882.5:c.1934_1936del	ENSP00000449690.1:p.Cys645del
NM_001200053.1:c.1676_1678del	NP_001186982.1:p.Cys559del
NM_001200054.1:c.1955_1957del	NP_001186983.1:p.Cys652del
NM_006928.4:c.1934_1936del	NP_008859.1:p.Cys645del
XM_006719569.1:c.1934_1936del	XP_006719632.1:p.Cys645del
XM_011538685.1:c.1955_1957del	XP_011536987.1:p.Cys652del
XM_011538686.1:c.1829_1831del	XP_011536988.1:p.Cys610del
XM_011538687.1:c.1808_1810del	XP_011536989.1:p.Cys603del
NM_001320121.1:c.1829_1831del	NP_001307050.1:p.Cys610del
NM_001320122.1:c.1808_1810del	NP_001307051.1:p.Cys603del
NM_001384361.1:c.1934_1936del MANE Select	NP_001371290.1:p.Cys645del
NM_006928.5:c.1934_1936del	NP_008859.1:p.Cys645del