Canonical Allele Identifier: CA570097342

Gene: ENPP1

Linked Data

• dbSNP Id: rs1475048621
• gnomAD v2: 6-132172686-C-CA
• gnomAD v3: 6-131851546-C-CA
• gnomAD v4: 6-131851546-C-CA
• MyVariant Identifiers: chr6:g.132172686_132172687insA (hg19) ; chr6:g.131851546_131851547insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131851547dup , CM000668.2:g.131851547dup	GRCh38
NC_000006.11:g.132172687dup , CM000668.1:g.132172687dup	GRCh37
NC_000006.10:g.132214380dup	NCBI36
NG_008206.1:g.48532dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647893.1:c.556+280dup MANE Select	ENSP00000498074.1:n.556+280dup
ENST00000650147.1:c.234+280dup
ENST00000650437.1:c.108+1441dup
ENST00000360971.6:c.556+280dup	ENSP00000354238.2:n.556+280dup
ENST00000513998.5:c.556+280dup	ENSP00000422424.1:n.556+280dup
NM_006208.2:c.556+280dup	NP_006199.2:n.556+280dup
NM_006208.3:c.556+280dup MANE Select	NP_006199.2:n.556+280dup