Canonical Allele Identifier: CA2038177468

Gene: PMEL

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55954231_55954234delinsTGAG , CM000674.2:g.55954231_55954234delinsTGAG	GRCh38
NC_000012.11:g.56348015_56348018delinsTGAG , CM000674.1:g.56348015_56348018delinsTGAG	GRCh37
NC_000012.10:g.54634282_54634285delinsTGAG	NCBI36
NG_028086.1:g.17479_17482delinsCTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000548747.6:c.1966_1969delinsCTCA MANE Select	ENSP00000448828.1:p.Leu656=
ENST00000449260.6:c.1987_1990delinsCTCA	ENSP00000402758.2:p.Leu663=
ENST00000548493.5:c.1966_1969delinsCTCA	ENSP00000447374.1:p.Leu656=
ENST00000548747.5:c.1966_1969delinsCTCA	ENSP00000448828.1:p.Leu656=
ENST00000550447.5:c.853_856delinsCTCA	ENSP00000448029.1:p.Leu285=
ENST00000550464.5:c.1708_1711delinsCTCA	ENSP00000450036.1:p.Leu570=
ENST00000552882.5:c.1966_1969delinsCTCA	ENSP00000449690.1:p.Leu656=
NM_001200053.1:c.1708_1711delinsCTCA	NP_001186982.1:p.Leu570=
NM_001200054.1:c.1987_1990delinsCTCA	NP_001186983.1:p.Leu663=
NM_006928.4:c.1966_1969delinsCTCA	NP_008859.1:p.Leu656=
XM_006719569.1:c.1966_1969delinsCTCA	XP_006719632.1:p.Leu656=
XM_011538685.1:c.1987_1990delinsCTCA	XP_011536987.1:p.Leu663=
XM_011538686.1:c.1861_1864delinsCTCA	XP_011536988.1:p.Leu621=
XM_011538687.1:c.1840_1843delinsCTCA	XP_011536989.1:p.Leu614=
NM_001320121.1:c.1861_1864delinsCTCA	NP_001307050.1:p.Leu621=
NM_001320122.1:c.1840_1843delinsCTCA	NP_001307051.1:p.Leu614=
NM_001384361.1:c.1966_1969delinsCTCA MANE Select	NP_001371290.1:p.Leu656=
NM_006928.5:c.1966_1969delinsCTCA	NP_008859.1:p.Leu656=