Canonical Allele Identifier: CA2740094282

Gene: NEU1

Linked Data

• ClinVar Variation Id: 2984664
• ClinVar RCV Id: RCV003845807

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31859965_31859966insCCAGGTTCACTCC , CM000668.2:g.31859965_31859966insCCAGGTTCACTCC	GRCh38
NC_000006.11:g.31827742_31827743insCCAGGTTCACTCC , CM000668.1:g.31827742_31827743insCCAGGTTCACTCC	GRCh37
NC_000006.10:g.31935721_31935722insCCAGGTTCACTCC	NCBI36
NG_008201.1:g.7968_7969insGAGTGAACCTGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.1022-20_1022-19insGAGTGAACCTGGG MANE Select	ENSP00000364782.4:n.1022-20_1022-19insGAGTGAACCTGGG
ENST00000677054.1:n.2341_2342insGAGTGAACCTGGG
ENST00000677512.1:n.1299-20_1299-19insGAGTGAACCTGGG
ENST00000678869.1:n.1610-20_1610-19insGAGTGAACCTGGG
ENST00000375631.4:c.1022-20_1022-19insGAGTGAACCTGGG	ENSP00000364782.4:n.1022-20_1022-19insGAGTGAACCTGGG
ENST00000480384.1:n.1301_1302insGAGTGAACCTGGG
ENST00000491768.5:c.*132-20_*132-19insGAGTGAACCTGGG	ENSP00000433127.1:n.*132-20_*132-19insGAGTGAACCTGGG
ENST00000495807.1:n.2330-20_2330-19insGAGTGAACCTGGG
NM_000434.3:c.1022-20_1022-19insGAGTGAACCTGGG	NP_000425.1:n.1022-20_1022-19insGAGTGAACCTGGG
NM_000434.4:c.1022-20_1022-19insGAGTGAACCTGGG MANE Select	NP_000425.1:n.1022-20_1022-19insGAGTGAACCTGGG