Canonical Allele Identifier: CA566692269

Gene: NEU1

Linked Data

• dbSNP Id: rs1156742216
• gnomAD v2: 6-31829274-ACCCTTTCTACCACTT-A
• gnomAD v4: 6-31861497-ACCCTTTCTACCACTT-A
• MyVariant Identifiers: chr6:g.31829275_31829289del (hg19) ; chr6:g.31861498_31861512del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31861501_31861515del , CM000668.2:g.31861501_31861515del	GRCh38
NC_000006.11:g.31829278_31829292del , CM000668.1:g.31829278_31829292del	GRCh37
NC_000006.10:g.31937257_31937271del	NCBI36
NG_008201.1:g.6421_6435del
NG_023058.1:g.22535_22549del

Transcript Alleles

HGVS	Amino-acid change
ENST00000375631.5:c.353-62_353-48del MANE Select	ENSP00000364782.4:n.353-62_353-48del
ENST00000677054.1:n.968_982del
ENST00000677512.1:n.461-62_461-48del
ENST00000678869.1:n.461-62_461-48del
ENST00000375631.4:c.353-62_353-48del	ENSP00000364782.4:n.353-62_353-48del
ENST00000480384.1:n.382-62_382-48del
ENST00000491768.5:c.353-62_353-48del	ENSP00000433127.1:n.353-62_353-48del
ENST00000495807.1:n.859_873del
NM_000434.3:c.353-62_353-48del	NP_000425.1:n.353-62_353-48del
NM_000434.4:c.353-62_353-48del MANE Select	NP_000425.1:n.353-62_353-48del