Canonical Allele Identifier: CA2678053415

Gene: NEU1

Linked Data

• gnomAD v4: 6-31859950-GGAGAGCAGGAGAGTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31859951_31859965del , CM000668.2:g.31859951_31859965del	GRCh38
NC_000006.11:g.31827728_31827742del , CM000668.1:g.31827728_31827742del	GRCh37
NC_000006.10:g.31935707_31935721del	NCBI36
NG_008201.1:g.7968_7982del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.1022-20_1022-6del MANE Select	ENSP00000364782.4:n.1022-20_1022-6del
ENST00000677054.1:n.2341_2355del
ENST00000677512.1:n.1299-20_1299-6del
ENST00000678869.1:n.1610-20_1610-6del
ENST00000375631.4:c.1022-20_1022-6del	ENSP00000364782.4:n.1022-20_1022-6del
ENST00000480384.1:n.1301_1315del
ENST00000491768.5:c.*132-20_*132-6del	ENSP00000433127.1:n.*132-20_*132-6del
ENST00000495807.1:n.2330-20_2330-6del
NM_000434.3:c.1022-20_1022-6del	NP_000425.1:n.1022-20_1022-6del
NM_000434.4:c.1022-20_1022-6del MANE Select	NP_000425.1:n.1022-20_1022-6del