Canonical Allele Identifier: CA1619342313

Gene: NEU1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31861427_31861428delinsAC , CM000668.2:g.31861427_31861428delinsAC	GRCh38
NC_000006.11:g.31829204_31829205delinsAC , CM000668.1:g.31829204_31829205delinsAC	GRCh37
NC_000006.10:g.31937183_31937184delinsAC	NCBI36
NG_008201.1:g.6505_6506delinsGT
NG_023058.1:g.22619_22620delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.375_376delinsGT MANE Select	ENSP00000364782.4:p.Ala125=
ENST00000677054.1:n.1052_1053delinsGT
ENST00000677512.1:n.483_484delinsGT
ENST00000678869.1:n.483_484delinsGT
ENST00000375631.4:c.375_376delinsGT	ENSP00000364782.4:p.Ala125=
ENST00000480384.1:n.404_405delinsGT
ENST00000491768.5:c.375_376delinsGT	ENSP00000433127.1:p.Ala125=
ENST00000495807.1:n.943_944delinsGT
NM_000434.3:c.375_376delinsGT	NP_000425.1:p.Ala125=
NM_000434.4:c.375_376delinsGT MANE Select	NP_000425.1:p.Ala125=