Canonical Allele Identifier: CA2619668221

Gene: LEMD3

Linked Data

• gnomAD v4: 12-65170185-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65170191del , CM000674.2:g.65170191del	GRCh38
NC_000012.11:g.65563971del , CM000674.1:g.65563971del	GRCh37
NC_000012.10:g.63850238del	NCBI36
NG_016210.1:g.5621del
NG_016210.2:g.5621del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308330.3:c.595del MANE Select	ENSP00000308369.2:p.Ala199ProfsTer?
ENST00000308330.2:c.595del	ENSP00000308369.2:p.Ala199ProfsTer?
ENST00000541171.1:n.609del
NM_001167614.1:c.595del	NP_001161086.1:p.Ala199ProfsTer?
NM_014319.4:c.595del	NP_055134.2:p.Ala199ProfsTer?
NM_014319.5:c.595del MANE Select	NP_055134.2:p.Ala199ProfsTer?
NM_001167614.2:c.595del	NP_001161086.1:p.Ala199ProfsTer?