Canonical Allele Identifier: CA6619800

Gene: PMEL

Linked Data

• dbSNP Id: rs770420411
• ExAC: 12:56347998 TCA / T
• gnomAD v2: 12-56347998-TCA-T
• gnomAD v4: 12-55954214-TCA-T
• MyVariant Identifiers: chr12:g.56347999_56348000del (hg19) ; chr12:g.55954215_55954216del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55954215_55954216del , CM000674.2:g.55954215_55954216del	GRCh38
NC_000012.11:g.56347999_56348000del , CM000674.1:g.56347999_56348000del	GRCh37
NC_000012.10:g.54634266_54634267del	NCBI36
NG_028086.1:g.17497_17498del

Transcript Alleles

HGVS	Amino-acid change
ENST00000548747.6:c.1984_1985del MANE Select	ENSP00000448828.1:p.Ter662SerextTer5
ENST00000449260.6:c.2005_2006del	ENSP00000402758.2:p.Ter669SerextTer5
ENST00000548493.5:c.1984_1985del	ENSP00000447374.1:p.Ter662SerextTer5
ENST00000548747.5:c.1984_1985del	ENSP00000448828.1:p.Ter662SerextTer5
ENST00000550447.5:c.871_872del	ENSP00000448029.1:p.Ter291SerextTer5
ENST00000550464.5:c.1726_1727del	ENSP00000450036.1:p.Ter576SerextTer5
ENST00000552882.5:c.1984_1985del	ENSP00000449690.1:p.Ter662SerextTer5
NM_001200053.1:c.1726_1727del	NP_001186982.1:p.Ter576SerextTer5
NM_001200054.1:c.2005_2006del	NP_001186983.1:p.Ter669SerextTer5
NM_006928.4:c.1984_1985del	NP_008859.1:p.Ter662SerextTer5
XM_006719569.1:c.1984_1985del	XP_006719632.1:p.Ter662SerextTer5
XM_011538685.1:c.2005_2006del	XP_011536987.1:p.Ter669SerextTer5
XM_011538686.1:c.1879_1880del	XP_011536988.1:p.Ter627SerextTer5
XM_011538687.1:c.1858_1859del	XP_011536989.1:p.Ter620SerextTer5
NM_001320121.1:c.1879_1880del	NP_001307050.1:p.Ter627SerextTer5
NM_001320122.1:c.1858_1859del	NP_001307051.1:p.Ter620SerextTer5
NM_001384361.1:c.1984_1985del MANE Select	NP_001371290.1:p.Ter662SerextTer5
NM_006928.5:c.1984_1985del	NP_008859.1:p.Ter662SerextTer5