Canonical Allele Identifier: CA2578570637

Gene: NEU1

Linked Data

• dbSNP Id: rs2151543555
• gnomAD v4: 6-31859667-TTCCTGAAGGCAGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31859681_31859694del , CM000668.2:g.31859681_31859694del	GRCh38
NC_000006.11:g.31827458_31827471del , CM000668.1:g.31827458_31827471del	GRCh37
NC_000006.10:g.31935437_31935450del	NCBI36
NG_008201.1:g.8252_8265del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.*38_*51del MANE Select	ENSP00000364782.4:n.*38_*51del
ENST00000677054.1:n.2625_2638del
ENST00000677512.1:n.1563_1576del
ENST00000678869.1:n.1874_1887del
ENST00000375631.4:c.*38_*51del	ENSP00000364782.4:n.*38_*51del
ENST00000480384.1:n.1585_1598del
ENST00000491768.5:c.*396_*409del	ENSP00000433127.1:n.*396_*409del
ENST00000495807.1:n.2594_2607del
NM_000434.3:c.*38_*51del	NP_000425.1:n.*38_*51del
NM_000434.4:c.*38_*51del MANE Select	NP_000425.1:n.*38_*51del