Canonical Allele Identifier: CA2575274098

Gene: PMEL

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55957221_55957230del , CM000674.2:g.55957221_55957230del	GRCh38
NC_000012.11:g.56351005_56351014del , CM000674.1:g.56351005_56351014del	GRCh37
NC_000012.10:g.54637272_54637281del	NCBI36
NG_028086.1:g.14484_14493del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000548747.6:c.1074_1083del MANE Select	ENSP00000448828.1:p.Ile359HisfsTer13
ENST00000449260.6:c.1074_1083del	ENSP00000402758.2:p.Ile359HisfsTer13
ENST00000547137.5:c.912_921del	ENSP00000448849.1:p.Ile305HisfsTer13
ENST00000548493.5:c.1074_1083del	ENSP00000447374.1:p.Ile359HisfsTer13
ENST00000548747.5:c.1074_1083del	ENSP00000448828.1:p.Ile359HisfsTer13
ENST00000548803.5:c.627_636del	ENSP00000447732.1:p.Ile210HisfsTer15
ENST00000549404.5:c.736_745del
ENST00000549564.1:n.114_123del
ENST00000550447.5:c.358+1244_358+1253del	ENSP00000448029.1:n.358+1244_358+1253del
ENST00000550464.5:c.816_825del	ENSP00000450036.1:p.Ile273HisfsTer13
ENST00000552882.5:c.1074_1083del	ENSP00000449690.1:p.Ile359HisfsTer13
NM_001200053.1:c.816_825del	NP_001186982.1:p.Ile273HisfsTer13
NM_001200054.1:c.1074_1083del	NP_001186983.1:p.Ile359HisfsTer13
NM_006928.4:c.1074_1083del	NP_008859.1:p.Ile359HisfsTer13
XM_006719569.1:c.1074_1083del	XP_006719632.1:p.Ile359HisfsTer13
XM_011538685.1:c.1074_1083del	XP_011536987.1:p.Ile359HisfsTer13
XM_011538686.1:c.1074_1083del	XP_011536988.1:p.Ile359HisfsTer15
XM_011538687.1:c.1074_1083del	XP_011536989.1:p.Ile359HisfsTer15
NM_001320121.1:c.1074_1083del	NP_001307050.1:p.Ile359HisfsTer15
NM_001320122.1:c.1074_1083del	NP_001307051.1:p.Ile359HisfsTer15
NM_001384361.1:c.1074_1083del MANE Select	NP_001371290.1:p.Ile359HisfsTer13
NM_006928.5:c.1074_1083del	NP_008859.1:p.Ile359HisfsTer13