Canonical Allele Identifier: CA1094553732

Gene: ENPP1

Linked Data

• dbSNP Id: rs1781817226
• gnomAD v3: 6-131846816-GGA-G
• gnomAD v4: 6-131846816-GGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131846817_131846818del , CM000668.2:g.131846817_131846818del	GRCh38
NC_000006.11:g.132167957_132167958del , CM000668.1:g.132167957_132167958del	GRCh37
NC_000006.10:g.132209650_132209651del	NCBI36
NG_008206.1:g.43802_43803del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684147.1:n.519-959_519-958del
ENST00000647893.1:c.241-959_241-958del MANE Select	ENSP00000498074.1:n.241-959_241-958del
ENST00000650507.1:c.248-959_248-958del	ENSP00000497375.1:n.248-959_248-958del
ENST00000360971.6:c.241-959_241-958del	ENSP00000354238.2:n.241-959_241-958del
ENST00000486853.1:n.261-959_261-958del
ENST00000513998.5:c.241-959_241-958del	ENSP00000422424.1:n.241-959_241-958del
NM_006208.2:c.241-959_241-958del	NP_006199.2:n.241-959_241-958del
NM_006208.3:c.241-959_241-958del MANE Select	NP_006199.2:n.241-959_241-958del