Canonical Allele Identifier: CA1664277035

Gene: ENPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131877090_131877093delinsGTGC , CM000668.2:g.131877090_131877093delinsGTGC	GRCh38
NC_000006.11:g.132198230_132198233delinsGTGC , CM000668.1:g.132198230_132198233delinsGTGC	GRCh37
NC_000006.10:g.132239923_132239926delinsGTGC	NCBI36
NG_008206.1:g.74075_74078delinsGTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683687.1:n.694_697delinsGTGC
ENST00000684536.1:n.320_323delinsGTGC
ENST00000647893.1:c.1822_1825delinsGTGC MANE Select	ENSP00000498074.1:p.Val608=
ENST00000647981.1:n.507_510delinsGTGC
ENST00000650437.1:c.1313_1316delinsGTGC
ENST00000360971.6:c.1822_1825delinsGTGC	ENSP00000354238.2:p.Val608=
ENST00000459624.1:n.866_869delinsGTGC
ENST00000513998.5:c.*659_*662delinsGTGC	ENSP00000422424.1:n.*659_*662delinsGTGC
NM_006208.2:c.1822_1825delinsGTGC	NP_006199.2:p.Val608=
XM_011535896.1:c.712_715delinsGTGC	XP_011534198.1:p.Val238=
NM_006208.3:c.1822_1825delinsGTGC MANE Select	NP_006199.2:p.Val608=