Canonical Allele Identifier: CA566692273

Gene: NEU1

Linked Data

• dbSNP Id: rs1261414063
• gnomAD v2: 6-31829355-CACTT-C
• gnomAD v3: 6-31861578-CACTT-C
• gnomAD v4: 6-31861578-CACTT-C
• MyVariant Identifiers: chr6:g.31829356_31829359del (hg19) ; chr6:g.31861579_31861582del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31861579_31861582del , CM000668.2:g.31861579_31861582del	GRCh38
NC_000006.11:g.31829356_31829359del , CM000668.1:g.31829356_31829359del	GRCh37
NC_000006.10:g.31937335_31937338del	NCBI36
NG_008201.1:g.6351_6354del
NG_023058.1:g.22465_22468del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.353-132_353-129del MANE Select	ENSP00000364782.4:n.353-132_353-129del
ENST00000677054.1:n.898_901del
ENST00000677512.1:n.461-132_461-129del
ENST00000678869.1:n.461-132_461-129del
ENST00000375631.4:c.353-132_353-129del	ENSP00000364782.4:n.353-132_353-129del
ENST00000480384.1:n.382-132_382-129del
ENST00000491768.5:c.353-132_353-129del	ENSP00000433127.1:n.353-132_353-129del
ENST00000495807.1:n.789_792del
NM_000434.3:c.353-132_353-129del	NP_000425.1:n.353-132_353-129del
NM_000434.4:c.353-132_353-129del MANE Select	NP_000425.1:n.353-132_353-129del