Canonical Allele Identifier: CA605710067

Gene: LEMD3

Linked Data

• dbSNP Id: rs1234347634
• gnomAD v2: 12-65633821-T-TCA
• MyVariant Identifiers: chr12:g.65633821_65633822insCA (hg19) ; chr12:g.65240041_65240042insCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65240041_65240042insCA , CM000674.2:g.65240041_65240042insCA	GRCh38
NC_000012.11:g.65633821_65633822insCA , CM000674.1:g.65633821_65633822insCA	GRCh37
NC_000012.10:g.63920088_63920089insCA	NCBI36
NG_016210.1:g.75471_75472insCA
NG_016210.2:g.75471_75472insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308330.3:c.2023+11_2023+12insCA MANE Select	ENSP00000308369.2:n.2023+11_2023+12insCA
ENST00000308330.2:c.2023+11_2023+12insCA	ENSP00000308369.2:n.2023+11_2023+12insCA
NM_001167614.1:c.2020+11_2020+12insCA	NP_001161086.1:n.2020+11_2020+12insCA
NM_014319.4:c.2023+11_2023+12insCA	NP_055134.2:n.2023+11_2023+12insCA
NM_014319.5:c.2023+11_2023+12insCA MANE Select	NP_055134.2:n.2023+11_2023+12insCA
NM_001167614.2:c.2020+11_2020+12insCA	NP_001161086.1:n.2020+11_2020+12insCA