Canonical Allele Identifier: CA2578743239
Gene: ENPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890611del , CM000668.2:g.131890611del GRCh38
NC_000006.11:g.132211751del , CM000668.1:g.132211751del GRCh37
NC_000006.10:g.132253444del NCBI36
NG_008206.1:g.87596del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684674.1:n.1309del
ENST00000647893.1:c.*100del MANE Select ENSP00000498074.1:n.*100del
ENST00000360971.6:c.*100del ENSP00000354238.2:n.*100del
ENST00000513998.5:c.*1715del ENSP00000422424.1:n.*1715del
NM_006208.2:c.*100del NP_006199.2:n.*100del
XM_011535896.1:c.*100del XP_011534198.1:n.*100del
NM_006208.3:c.*100del MANE Select NP_006199.2:n.*100del