Canonical Allele Identifier: CA1664237954
Gene: ENPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131829303_131829307delinsATCTT , CM000668.2:g.131829303_131829307delinsATCTT GRCh38
NC_000006.11:g.132150443_132150447delinsATCTT , CM000668.1:g.132150443_132150447delinsATCTT GRCh37
NC_000006.10:g.132192136_132192140delinsATCTT NCBI36
NG_008206.1:g.26288_26292delinsATCTT

Transcript Alleles

HGVS Amino-acid change
ENST00000647893.1:c.241-18473_241-18469delinsATCTT MANE Select ENSP00000498074.1:n.241-18473_241-18469delinsATCTT
ENST00000650507.1:c.247+3188_247+3192delinsATCTT ENSP00000497375.1:n.247+3188_247+3192delinsATCTT
ENST00000360971.6:c.241-18473_241-18469delinsATCTT ENSP00000354238.2:n.241-18473_241-18469delinsATCTT
ENST00000486853.1:n.261-18473_261-18469delinsATCTT
ENST00000513998.5:c.241-18473_241-18469delinsATCTT ENSP00000422424.1:n.241-18473_241-18469delinsATCTT
NM_006208.2:c.241-18473_241-18469delinsATCTT NP_006199.2:n.241-18473_241-18469delinsATCTT
NM_006208.3:c.241-18473_241-18469delinsATCTT MANE Select NP_006199.2:n.241-18473_241-18469delinsATCTT