Canonical Allele Identifier: CA2038177450

Gene: PMEL

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55954214_55954216delinsTCA , CM000674.2:g.55954214_55954216delinsTCA	GRCh38
NC_000012.11:g.56347998_56348000delinsTCA , CM000674.1:g.56347998_56348000delinsTCA	GRCh37
NC_000012.10:g.54634265_54634267delinsTCA	NCBI36
NG_028086.1:g.17497_17499delinsTGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000548747.6:c.1984_1986delinsTGA MANE Select	ENSP00000448828.1:p.Ter662=
ENST00000449260.6:c.2005_2007delinsTGA	ENSP00000402758.2:p.Ter669=
ENST00000548493.5:c.1984_1986delinsTGA	ENSP00000447374.1:p.Ter662=
ENST00000548747.5:c.1984_1986delinsTGA	ENSP00000448828.1:p.Ter662=
ENST00000550447.5:c.871_873delinsTGA	ENSP00000448029.1:p.Ter291=
ENST00000550464.5:c.1726_1728delinsTGA	ENSP00000450036.1:p.Ter576=
ENST00000552882.5:c.1984_1986delinsTGA	ENSP00000449690.1:p.Ter662=
NM_001200053.1:c.1726_1728delinsTGA	NP_001186982.1:p.Ter576=
NM_001200054.1:c.2005_2007delinsTGA	NP_001186983.1:p.Ter669=
NM_006928.4:c.1984_1986delinsTGA	NP_008859.1:p.Ter662=
XM_006719569.1:c.1984_1986delinsTGA	XP_006719632.1:p.Ter662=
XM_011538685.1:c.2005_2007delinsTGA	XP_011536987.1:p.Ter669=
XM_011538686.1:c.1879_1881delinsTGA	XP_011536988.1:p.Ter627=
XM_011538687.1:c.1858_1860delinsTGA	XP_011536989.1:p.Ter620=
NM_001320121.1:c.1879_1881delinsTGA	NP_001307050.1:p.Ter627=
NM_001320122.1:c.1858_1860delinsTGA	NP_001307051.1:p.Ter620=
NM_001384361.1:c.1984_1986delinsTGA MANE Select	NP_001371290.1:p.Ter662=
NM_006928.5:c.1984_1986delinsTGA	NP_008859.1:p.Ter662=