Canonical Allele Identifier: CA2678054008

Gene: NEU1

Linked Data

• gnomAD v4: 6-31861634-CCTTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31861636_31861639del , CM000668.2:g.31861636_31861639del	GRCh38
NC_000006.11:g.31829413_31829416del , CM000668.1:g.31829413_31829416del	GRCh37
NC_000006.10:g.31937392_31937395del	NCBI36
NG_008201.1:g.6295_6298del
NG_023058.1:g.22409_22412del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.353-188_353-185del MANE Select	ENSP00000364782.4:n.353-188_353-185del
ENST00000677054.1:n.842_845del
ENST00000677512.1:n.461-188_461-185del
ENST00000678869.1:n.461-188_461-185del
ENST00000375631.4:c.353-188_353-185del	ENSP00000364782.4:n.353-188_353-185del
ENST00000480384.1:n.382-188_382-185del
ENST00000491768.5:c.353-188_353-185del	ENSP00000433127.1:n.353-188_353-185del
ENST00000495807.1:n.733_736del
NM_000434.3:c.353-188_353-185del	NP_000425.1:n.353-188_353-185del
NM_000434.4:c.353-188_353-185del MANE Select	NP_000425.1:n.353-188_353-185del