Canonical Allele Identifier: CA605654968
Gene: LEMD3 HGNC NCBI

Linked Data

dbSNP Id: rs1415005899
gnomAD v2: 12-65640728-AT-A
MyVariant Identifiers: chr12:g.65640729del (hg19) chr12:g.65246949del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65246949del , CM000674.2:g.65246949del GRCh38
NC_000012.11:g.65640729del , CM000674.1:g.65640729del GRCh37
NC_000012.10:g.63926996del NCBI36
NG_016210.1:g.82379del
NG_016210.2:g.82379del

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.*624del MANE Select ENSP00000308369.2:n.*624del
ENST00000308330.2:c.*624del ENSP00000308369.2:n.*624del
NM_001167614.1:c.*624del NP_001161086.1:n.*624del
NM_014319.4:c.*624del NP_055134.2:n.*624del
NM_014319.5:c.*624del MANE Select NP_055134.2:n.*624del
NM_001167614.2:c.*624del NP_001161086.1:n.*624del
Search 100 bp 5'
Search 100 bp 3'