Canonical Allele Identifier: CA136925167

Gene: NEU1

Linked Data

• dbSNP Id: rs941536528
• gnomAD v3: 6-31859655-T-TACAG
• gnomAD v4: 6-31859655-T-TACAG
• MyVariant Identifiers: chr6:g.31827432_31827433insACAG (hg19) ; chr6:g.31859655_31859656insACAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31859658_31859661dup , CM000668.2:g.31859658_31859661dup	GRCh38
NC_000006.11:g.31827435_31827438dup , CM000668.1:g.31827435_31827438dup	GRCh37
NC_000006.10:g.31935414_31935417dup	NCBI36
NG_008201.1:g.8274_8277dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.*60_*63dup MANE Select	ENSP00000364782.4:n.*60_*63dup
ENST00000677054.1:n.2647_2650dup
ENST00000677512.1:n.1585_1588dup
ENST00000678869.1:n.1896_1899dup
ENST00000375631.4:c.*60_*63dup	ENSP00000364782.4:n.*60_*63dup
ENST00000480384.1:n.1607_1610dup
ENST00000491768.5:c.*418_*421dup	ENSP00000433127.1:n.*418_*421dup
ENST00000495807.1:n.2616_2619dup
NM_000434.3:c.*60_*63dup	NP_000425.1:n.*60_*63dup
NM_000434.4:c.*60_*63dup MANE Select	NP_000425.1:n.*60_*63dup