Canonical Allele Identifier: CA605248679

Gene: PMEL

Linked Data

• dbSNP Id: rs1231593194
• gnomAD v2: 12-56348052-GA-G
• gnomAD v4: 12-55954268-GA-G
• MyVariant Identifiers: chr12:g.56348053del (hg19) ; chr12:g.55954269del (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000548747.6:c.1931del MANE Select	ENSP00000448828.1:p.Phe644SerfsTer26
ENST00000449260.6:c.1952del	ENSP00000402758.2:p.Phe651SerfsTer26
ENST00000548493.5:c.1931del	ENSP00000447374.1:p.Phe644SerfsTer26
ENST00000548747.5:c.1931del	ENSP00000448828.1:p.Phe644SerfsTer26
ENST00000550447.5:c.818del	ENSP00000448029.1:p.Phe273SerfsTer?
ENST00000550464.5:c.1673del	ENSP00000450036.1:p.Phe558SerfsTer26
ENST00000552882.5:c.1931del	ENSP00000449690.1:p.Phe644SerfsTer26
NM_001200053.1:c.1673del	NP_001186982.1:p.Phe558SerfsTer26
NM_001200054.1:c.1952del	NP_001186983.1:p.Phe651SerfsTer26
NM_006928.4:c.1931del	NP_008859.1:p.Phe644SerfsTer26
XM_006719569.1:c.1931del	XP_006719632.1:p.Phe644SerfsTer26
XM_011538685.1:c.1952del	XP_011536987.1:p.Phe651SerfsTer26
XM_011538686.1:c.1826del	XP_011536988.1:p.Phe609SerfsTer26
XM_011538687.1:c.1805del	XP_011536989.1:p.Phe602SerfsTer26
NM_001320121.1:c.1826del	NP_001307050.1:p.Phe609SerfsTer26
NM_001320122.1:c.1805del	NP_001307051.1:p.Phe602SerfsTer26
NM_001384361.1:c.1931del MANE Select	NP_001371290.1:p.Phe644SerfsTer26
NM_006928.5:c.1931del	NP_008859.1:p.Phe644SerfsTer26