Canonical Allele Identifier: CA2578743223
Gene: ENPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131890557del , CM000668.2:g.131890557del GRCh38
NC_000006.11:g.132211697del , CM000668.1:g.132211697del GRCh37
NC_000006.10:g.132253390del NCBI36
NG_008206.1:g.87542del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684674.1:n.1255del
ENST00000647893.1:c.*46del MANE Select ENSP00000498074.1:n.*46del
ENST00000360971.6:c.*46del ENSP00000354238.2:n.*46del
ENST00000513998.5:c.*1661del ENSP00000422424.1:n.*1661del
NM_006208.2:c.*46del NP_006199.2:n.*46del
XM_011535896.1:c.*46del XP_011534198.1:n.*46del
NM_006208.3:c.*46del MANE Select NP_006199.2:n.*46del