Canonical Allele Identifier: CA136927561

Gene: NEU1

Linked Data

• dbSNP Id: rs1003414779
• MyVariant Identifiers: chr6:g.31829777_31829788del (hg19) ; chr6:g.31862000_31862011del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31862001_31862012del , CM000668.2:g.31862001_31862012del	GRCh38
NC_000006.11:g.31829778_31829789del , CM000668.1:g.31829778_31829789del	GRCh37
NC_000006.10:g.31937757_31937768del	NCBI36
NG_008201.1:g.5922_5933del
NG_023058.1:g.22036_22047del

Transcript Alleles

HGVS	Amino-acid change
ENST00000375631.5:c.340_351del MANE Select	ENSP00000364782.4:p.Ser114_Gln117del
ENST00000677054.1:n.469_480del
ENST00000677512.1:n.448_459del
ENST00000678869.1:n.448_459del
ENST00000375631.4:c.340_351del	ENSP00000364782.4:p.Ser114_Gln117del
ENST00000480384.1:n.369_380del
ENST00000491768.5:c.340_351del	ENSP00000433127.1:p.Ser114_Gln117del
ENST00000495807.1:n.360_371del
NM_000434.3:c.340_351del	NP_000425.1:p.Ser114_Gln117del
NM_000434.4:c.340_351del MANE Select	NP_000425.1:p.Ser114_Gln117del