Canonical Allele Identifier: CA2038177502

Gene: PMEL

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55954247_55954248delinsCT , CM000674.2:g.55954247_55954248delinsCT	GRCh38
NC_000012.11:g.56348031_56348032delinsCT , CM000674.1:g.56348031_56348032delinsCT	GRCh37
NC_000012.10:g.54634298_54634299delinsCT	NCBI36
NG_028086.1:g.17465_17466delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000548747.6:c.1952_1953delinsAG MANE Select	ENSP00000448828.1:p.Glu651=
ENST00000449260.6:c.1973_1974delinsAG	ENSP00000402758.2:p.Glu658=
ENST00000548493.5:c.1952_1953delinsAG	ENSP00000447374.1:p.Glu651=
ENST00000548747.5:c.1952_1953delinsAG	ENSP00000448828.1:p.Glu651=
ENST00000550447.5:c.839_840delinsAG	ENSP00000448029.1:p.Glu280=
ENST00000550464.5:c.1694_1695delinsAG	ENSP00000450036.1:p.Glu565=
ENST00000552882.5:c.1952_1953delinsAG	ENSP00000449690.1:p.Glu651=
NM_001200053.1:c.1694_1695delinsAG	NP_001186982.1:p.Glu565=
NM_001200054.1:c.1973_1974delinsAG	NP_001186983.1:p.Glu658=
NM_006928.4:c.1952_1953delinsAG	NP_008859.1:p.Glu651=
XM_006719569.1:c.1952_1953delinsAG	XP_006719632.1:p.Glu651=
XM_011538685.1:c.1973_1974delinsAG	XP_011536987.1:p.Glu658=
XM_011538686.1:c.1847_1848delinsAG	XP_011536988.1:p.Glu616=
XM_011538687.1:c.1826_1827delinsAG	XP_011536989.1:p.Glu609=
NM_001320121.1:c.1847_1848delinsAG	NP_001307050.1:p.Glu616=
NM_001320122.1:c.1826_1827delinsAG	NP_001307051.1:p.Glu609=
NM_001384361.1:c.1952_1953delinsAG MANE Select	NP_001371290.1:p.Glu651=
NM_006928.5:c.1952_1953delinsAG	NP_008859.1:p.Glu651=