Canonical Allele Identifier: CA2678053962

Gene: NEU1

Linked Data

• gnomAD v4: 6-31861573-T-TGTTGGATTGCAC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31861573_31861574insGTTGGATTGCAC , CM000668.2:g.31861573_31861574insGTTGGATTGCAC	GRCh38
NC_000006.11:g.31829350_31829351insGTTGGATTGCAC , CM000668.1:g.31829350_31829351insGTTGGATTGCAC	GRCh37
NC_000006.10:g.31937329_31937330insGTTGGATTGCAC	NCBI36
NG_008201.1:g.6359_6360insGTGCAATCCAAC
NG_023058.1:g.22473_22474insGTGCAATCCAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.353-124_353-123insGTGCAATCCAAC MANE Select	ENSP00000364782.4:n.353-124_353-123insGTGCAATCCAAC
ENST00000677054.1:n.906_907insGTGCAATCCAAC
ENST00000677512.1:n.461-124_461-123insGTGCAATCCAAC
ENST00000678869.1:n.461-124_461-123insGTGCAATCCAAC
ENST00000375631.4:c.353-124_353-123insGTGCAATCCAAC	ENSP00000364782.4:n.353-124_353-123insGTGCAATCCAAC
ENST00000480384.1:n.382-124_382-123insGTGCAATCCAAC
ENST00000491768.5:c.353-124_353-123insGTGCAATCCAAC	ENSP00000433127.1:n.353-124_353-123insGTGCAATCCAAC
ENST00000495807.1:n.797_798insGTGCAATCCAAC
NM_000434.3:c.353-124_353-123insGTGCAATCCAAC	NP_000425.1:n.353-124_353-123insGTGCAATCCAAC
NM_000434.4:c.353-124_353-123insGTGCAATCCAAC MANE Select	NP_000425.1:n.353-124_353-123insGTGCAATCCAAC