Canonical Allele Identifier: CA2770523340

Gene: NEU1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31859943_31859944insAGGAGAG , CM000668.2:g.31859943_31859944insAGGAGAG	GRCh38
NC_000006.11:g.31827720_31827721insAGGAGAG , CM000668.1:g.31827720_31827721insAGGAGAG	GRCh37
NC_000006.10:g.31935699_31935700insAGGAGAG	NCBI36
NG_008201.1:g.7989_7990insCTCTCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.1023_1024insCTCTCCT MANE Select	ENSP00000364782.4:p.Val342LeufsTer?
ENST00000677054.1:n.2362_2363insCTCTCCT
ENST00000677512.1:n.1300_1301insCTCTCCT
ENST00000678869.1:n.1611_1612insCTCTCCT
ENST00000375631.4:c.1023_1024insCTCTCCT	ENSP00000364782.4:p.Val342LeufsTer?
ENST00000480384.1:n.1322_1323insCTCTCCT
ENST00000491768.5:c.*133_*134insCTCTCCT	ENSP00000433127.1:n.*133_*134insCTCTCCT
ENST00000495807.1:n.2331_2332insCTCTCCT
NM_000434.3:c.1023_1024insCTCTCCT	NP_000425.1:p.Val342LeufsTer?
NM_000434.4:c.1023_1024insCTCTCCT MANE Select	NP_000425.1:p.Val342LeufsTer?