Canonical Allele Identifier: CA238915172
Gene: LEMD3 HGNC NCBI

Linked Data

dbSNP Id: rs545655759
gnomAD v4: 12-65239871-ATAT-A
MyVariant Identifiers: chr12:g.65633652_65633654del (hg19) chr12:g.65239872_65239874del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65239876_65239878del , CM000674.2:g.65239876_65239878del GRCh38
NC_000012.11:g.65633656_65633658del , CM000674.1:g.65633656_65633658del GRCh37
NC_000012.10:g.63919923_63919925del NCBI36
NG_016210.1:g.75306_75308del
NG_016210.2:g.75306_75308del

Transcript Alleles

HGVS Amino-acid change
ENST00000308330.3:c.1922-53_1922-51del MANE Select ENSP00000308369.2:n.1922-53_1922-51del
ENST00000308330.2:c.1922-53_1922-51del ENSP00000308369.2:n.1922-53_1922-51del
NM_001167614.1:c.1919-53_1919-51del NP_001161086.1:n.1919-53_1919-51del
NM_014319.4:c.1922-53_1922-51del NP_055134.2:n.1922-53_1922-51del
NM_014319.5:c.1922-53_1922-51del MANE Select NP_055134.2:n.1922-53_1922-51del
NM_001167614.2:c.1919-53_1919-51del NP_001161086.1:n.1919-53_1919-51del
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