Canonical Allele Identifier: CA690141787

Gene: PMEL

Linked Data

• dbSNP Id: rs1299457840
• gnomAD v3: 12-55954464-TCC-T
• gnomAD v4: 12-55954464-TCC-T
• MyVariant Identifiers: chr12:g.56348249_56348250del (hg19) ; chr12:g.55954465_55954466del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55954465_55954466del , CM000674.2:g.55954465_55954466del	GRCh38
NC_000012.11:g.56348249_56348250del , CM000674.1:g.56348249_56348250del	GRCh37
NC_000012.10:g.54634516_54634517del	NCBI36
NG_028086.1:g.17247_17248del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000548747.6:c.1851-117_1851-116del MANE Select	ENSP00000448828.1:n.1851-117_1851-116del
ENST00000449260.6:c.1872-117_1872-116del	ENSP00000402758.2:n.1872-117_1872-116del
ENST00000548493.5:c.1851-117_1851-116del	ENSP00000447374.1:n.1851-117_1851-116del
ENST00000548747.5:c.1851-117_1851-116del	ENSP00000448828.1:n.1851-117_1851-116del
ENST00000549564.1:n.430-117_430-116del
ENST00000550447.5:c.738-117_738-116del	ENSP00000448029.1:n.738-117_738-116del
ENST00000550464.5:c.1593-117_1593-116del	ENSP00000450036.1:n.1593-117_1593-116del
ENST00000552882.5:c.1851-117_1851-116del	ENSP00000449690.1:n.1851-117_1851-116del
NM_001200053.1:c.1593-117_1593-116del	NP_001186982.1:n.1593-117_1593-116del
NM_001200054.1:c.1872-117_1872-116del	NP_001186983.1:n.1872-117_1872-116del
NM_006928.4:c.1851-117_1851-116del	NP_008859.1:n.1851-117_1851-116del
XM_006719569.1:c.1851-117_1851-116del	XP_006719632.1:n.1851-117_1851-116del
XM_011538685.1:c.1872-117_1872-116del	XP_011536987.1:n.1872-117_1872-116del
XM_011538686.1:c.1746-117_1746-116del	XP_011536988.1:n.1746-117_1746-116del
XM_011538687.1:c.1725-117_1725-116del	XP_011536989.1:n.1725-117_1725-116del
NM_001320121.1:c.1746-117_1746-116del	NP_001307050.1:n.1746-117_1746-116del
NM_001320122.1:c.1725-117_1725-116del	NP_001307051.1:n.1725-117_1725-116del
NM_001384361.1:c.1851-117_1851-116del MANE Select	NP_001371290.1:n.1851-117_1851-116del
NM_006928.5:c.1851-117_1851-116del	NP_008859.1:n.1851-117_1851-116del