Canonical Allele Identifier: CA6619813

Gene: PMEL

Linked Data

• dbSNP Id: rs763389048
• ExAC: 12:56348079 ACTGCTG / A
• gnomAD v2: 12-56348079-ACTGCTG-A
• gnomAD v3: 12-55954295-ACTGCTG-A
• gnomAD v4: 12-55954295-ACTGCTG-A
• MyVariant Identifiers: chr12:g.56348080_56348085del (hg19) ; chr12:g.55954296_55954301del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55954298_55954303del , CM000674.2:g.55954298_55954303del	GRCh38
NC_000012.11:g.56348082_56348087del , CM000674.1:g.56348082_56348087del	GRCh37
NC_000012.10:g.54634349_54634354del	NCBI36
NG_028086.1:g.17412_17417del

Transcript Alleles

HGVS	Amino-acid change
ENST00000548747.6:c.1899_1904del MANE Select	ENSP00000448828.1:p.Ser634_Ser635del
ENST00000449260.6:c.1920_1925del	ENSP00000402758.2:p.Ser641_Ser642del
ENST00000548493.5:c.1899_1904del	ENSP00000447374.1:p.Ser634_Ser635del
ENST00000548747.5:c.1899_1904del	ENSP00000448828.1:p.Ser634_Ser635del
ENST00000549564.1:n.478_483del
ENST00000550447.5:c.786_791del	ENSP00000448029.1:p.Ser263_Ser264del
ENST00000550464.5:c.1641_1646del	ENSP00000450036.1:p.Ser548_Ser549del
ENST00000552882.5:c.1899_1904del	ENSP00000449690.1:p.Ser634_Ser635del
NM_001200053.1:c.1641_1646del	NP_001186982.1:p.Ser548_Ser549del
NM_001200054.1:c.1920_1925del	NP_001186983.1:p.Ser641_Ser642del
NM_006928.4:c.1899_1904del	NP_008859.1:p.Ser634_Ser635del
XM_006719569.1:c.1899_1904del	XP_006719632.1:p.Ser634_Ser635del
XM_011538685.1:c.1920_1925del	XP_011536987.1:p.Ser641_Ser642del
XM_011538686.1:c.1794_1799del	XP_011536988.1:p.Ser599_Ser600del
XM_011538687.1:c.1773_1778del	XP_011536989.1:p.Ser592_Ser593del
NM_001320121.1:c.1794_1799del	NP_001307050.1:p.Ser599_Ser600del
NM_001320122.1:c.1773_1778del	NP_001307051.1:p.Ser592_Ser593del
NM_001384361.1:c.1899_1904del MANE Select	NP_001371290.1:p.Ser634_Ser635del
NM_006928.5:c.1899_1904del	NP_008859.1:p.Ser634_Ser635del