Canonical Allele Identifier: CA2502387528

Gene: ENPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131877010_131877011insAAATACATGAGTCATTTACTCTTTAACTAAAATAAAAGTATAAAACTCTCTT , CM000668.2:g.131877010_131877011insAAATACATGAGTCATTTACTCTTTAACTAAAATAAAAGTATAAAACTCTCTT	GRCh38
NC_000006.11:g.132198150_132198151insAAATACATGAGTCATTTACTCTTTAACTAAAATAAAAGTATAAAACTCTCTT , CM000668.1:g.132198150_132198151insAAATACATGAGTCATTTACTCTTTAACTAAAATAAAAGTATAAAACTCTCTT	GRCh37
NC_000006.10:g.132239843_132239844insAAATACATGAGTCATTTACTCTTTAACTAAAATAAAAGTATAAAACTCTCTT	NCBI36
NG_008206.1:g.73995_73996insAAATACATGAGTCATTTACTCTTTAACTAAAATAAAAGTATAAAACTCTCTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000683687.1:n.614_615insAAATACATGAGTCATTTACTCTTTAACTAAAATAAAAGTATAAAACTCTCTT
ENST00000684536.1:n.240_241insAAATACATGAGTCATTTACTCTTTAACTAAAATAAAAGTATAAAACTCTCTT
ENST00000647893.1:c.1742_1743insAAATACATGAGTCATTTACTCTTTAACTAAAATAAAAGTATAAAACTCTCTT MANE Select	ENSP00000498074.1:p.Ala582AsnfsTer3
ENST00000647981.1:n.427_428insAAATACATGAGTCATTTACTCTTTAACTAAAATAAAAGTATAAAACTCTCTT
ENST00000650437.1:c.1233_1234insAAATACATGAGTCATTTACTCTTTAACTAAAATAAAAGTATAAAACTCTCTT
ENST00000360971.6:c.1742_1743insAAATACATGAGTCATTTACTCTTTAACTAAAATAAAAGTATAAAACTCTCTT	ENSP00000354238.2:p.Ala582AsnfsTer3
ENST00000459624.1:n.786_787insAAATACATGAGTCATTTACTCTTTAACTAAAATAAAAGTATAAAACTCTCTT
ENST00000513998.5:c.*579_*580insAAATACATGAGTCATTTACTCTTTAACTAAAATAAAAGTATAAAACTCTCTT	ENSP00000422424.1:n.*579_*580insAAATACATG...
NM_006208.2:c.1742_1743insAAATACATGAGTCATTTACTCTTTAACTAAAATAAAAGTATAAAACTCTCTT	NP_006199.2:p.Ala582AsnfsTer3
XM_011535896.1:c.632_633insAAATACATGAGTCATTTACTCTTTAACTAAAATAAAAGTATAAAACTCTCTT	XP_011534198.1:p.Ala212AsnfsTer3
NM_006208.3:c.1742_1743insAAATACATGAGTCATTTACTCTTTAACTAAAATAAAAGTATAAAACTCTCTT MANE Select	NP_006199.2:p.Ala582AsnfsTer3