Canonical Allele Identifier: CA1619341616

Gene: NEU1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31859726_31859727delinsGT , CM000668.2:g.31859726_31859727delinsGT	GRCh38
NC_000006.11:g.31827503_31827504delinsGT , CM000668.1:g.31827503_31827504delinsGT	GRCh37
NC_000006.10:g.31935482_31935483delinsGT	NCBI36
NG_008201.1:g.8206_8207delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.1240_1241delinsAC MANE Select	ENSP00000364782.4:p.Thr414=
ENST00000677054.1:n.2579_2580delinsAC
ENST00000677512.1:n.1517_1518delinsAC
ENST00000678869.1:n.1828_1829delinsAC
ENST00000375631.4:c.1240_1241delinsAC	ENSP00000364782.4:p.Thr414=
ENST00000480384.1:n.1539_1540delinsAC
ENST00000491768.5:c.*350_*351delinsAC	ENSP00000433127.1:n.*350_*351delinsAC
ENST00000495807.1:n.2548_2549delinsAC
NM_000434.3:c.1240_1241delinsAC	NP_000425.1:p.Thr414=
NM_000434.4:c.1240_1241delinsAC MANE Select	NP_000425.1:p.Thr414=