Canonical Allele Identifier: CA2038181153

Gene: PMEL

Linked Data

• dbSNP Id: rs1888913281

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55957099del , CM000674.2:g.55957099del	GRCh38
NC_000012.11:g.56350883del , CM000674.1:g.56350883del	GRCh37
NC_000012.10:g.54637150del	NCBI36
NG_028086.1:g.14615del

Transcript Alleles

HGVS	Amino-acid change
ENST00000548747.6:c.1205del MANE Select	ENSP00000448828.1:p.Pro402LeufsTer17
ENST00000449260.6:c.1205del	ENSP00000402758.2:p.Pro402LeufsTer17
ENST00000548493.5:c.1205del	ENSP00000447374.1:p.Pro402LeufsTer17
ENST00000548747.5:c.1205del	ENSP00000448828.1:p.Pro402LeufsTer17
ENST00000548803.5:c.671-39del	ENSP00000447732.1:n.671-39del
ENST00000549404.5:c.780-39del
ENST00000549564.1:n.235+10del
ENST00000550447.5:c.359-1235del	ENSP00000448029.1:n.359-1235del
ENST00000550464.5:c.947del	ENSP00000450036.1:p.Pro316LeufsTer17
ENST00000552882.5:c.1205del	ENSP00000449690.1:p.Pro402LeufsTer17
NM_001200053.1:c.947del	NP_001186982.1:p.Pro316LeufsTer17
NM_001200054.1:c.1205del	NP_001186983.1:p.Pro402LeufsTer17
NM_006928.4:c.1205del	NP_008859.1:p.Pro402LeufsTer17
XM_006719569.1:c.1205del	XP_006719632.1:p.Pro402LeufsTer17
XM_011538685.1:c.1205del	XP_011536987.1:p.Pro402LeufsTer17
XM_011538686.1:c.1118-39del	XP_011536988.1:n.1118-39del
XM_011538687.1:c.1118-39del	XP_011536989.1:n.1118-39del
NM_001320121.1:c.1118-39del	NP_001307050.1:n.1118-39del
NM_001320122.1:c.1118-39del	NP_001307051.1:n.1118-39del
NM_001384361.1:c.1205del MANE Select	NP_001371290.1:p.Pro402LeufsTer17
NM_006928.5:c.1205del	NP_008859.1:p.Pro402LeufsTer17