Canonical Allele Identifier: CA2712791009
Gene: ENPP1 HGNC NCBI

Linked Data

dbSNP Id: rs548096888

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131832861_131832863dup , CM000668.2:g.131832861_131832863dup GRCh38
NC_000006.11:g.132154001_132154003dup , CM000668.1:g.132154001_132154003dup GRCh37
NC_000006.10:g.132195694_132195696dup NCBI36
NG_008206.1:g.29846_29848dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000647893.1:c.241-14915_241-14913dup MANE Select ENSP00000498074.1:n.241-14915_241-14913dup
ENST00000650507.1:c.247+6746_247+6748dup ENSP00000497375.1:n.247+6746_247+6748dup
ENST00000360971.6:c.241-14915_241-14913dup ENSP00000354238.2:n.241-14915_241-14913dup
ENST00000486853.1:n.261-14915_261-14913dup
ENST00000513998.5:c.241-14915_241-14913dup ENSP00000422424.1:n.241-14915_241-14913dup
NM_006208.2:c.241-14915_241-14913dup NP_006199.2:n.241-14915_241-14913dup
NM_006208.3:c.241-14915_241-14913dup MANE Select NP_006199.2:n.241-14915_241-14913dup