Canonical Allele Identifier: CA605709996

Gene: LEMD3

Linked Data

• dbSNP Id: rs1256551692
• gnomAD v2: 12-65632256-TTATTTTTCTC-T
• gnomAD v4: 12-65238476-TTATTTTTCTC-T
• MyVariant Identifiers: chr12:g.65632257_65632266del (hg19) ; chr12:g.65238477_65238486del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65238486_65238495del , CM000674.2:g.65238486_65238495del	GRCh38
NC_000012.11:g.65632266_65632275del , CM000674.1:g.65632266_65632275del	GRCh37
NC_000012.10:g.63918533_63918542del	NCBI36
NG_016210.1:g.73916_73925del
NG_016210.2:g.73916_73925del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308330.3:c.1696-16_1696-7del MANE Select	ENSP00000308369.2:n.1696-16_1696-7del
ENST00000308330.2:c.1696-16_1696-7del	ENSP00000308369.2:n.1696-16_1696-7del
NM_001167614.1:c.1693-16_1693-7del	NP_001161086.1:n.1693-16_1693-7del
NM_014319.4:c.1696-16_1696-7del	NP_055134.2:n.1696-16_1696-7del
NM_014319.5:c.1696-16_1696-7del MANE Select	NP_055134.2:n.1696-16_1696-7del
NM_001167614.2:c.1693-16_1693-7del	NP_001161086.1:n.1693-16_1693-7del