Canonical Allele Identifier: CA2619669570
Gene: LEMD3 HGNC NCBI

Linked Data

gnomAD v4: 12-65239951-T-TC
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65239952dup , CM000674.2:g.65239952dup GRCh38
NC_000012.11:g.65633732dup , CM000674.1:g.65633732dup GRCh37
NC_000012.10:g.63919999dup NCBI36
NG_016210.1:g.75382dup
NG_016210.2:g.75382dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1945dup MANE Select ENSP00000308369.2:p.Leu649ProfsTer20
ENST00000308330.2:c.1945dup ENSP00000308369.2:p.Leu649ProfsTer20
NM_001167614.1:c.1942dup NP_001161086.1:p.Leu648ProfsTer20
NM_014319.4:c.1945dup NP_055134.2:p.Leu649ProfsTer20
NM_014319.5:c.1945dup MANE Select NP_055134.2:p.Leu649ProfsTer20
NM_001167614.2:c.1942dup NP_001161086.1:p.Leu648ProfsTer20
Search 100 bp 5'
Search 100 bp 3'