Canonical Allele Identifier: CA6671040

Gene: LEMD3

Linked Data

• dbSNP Id: rs781186127
• ExAC: 12:65632429 CCTTA / C
• gnomAD v2: 12-65632429-CCTTA-C
• gnomAD v4: 12-65238649-CCTTA-C
• MyVariant Identifiers: chr12:g.65632430_65632433del (hg19) ; chr12:g.65238650_65238653del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65238654_65238657del , CM000674.2:g.65238654_65238657del	GRCh38
NC_000012.11:g.65632434_65632437del , CM000674.1:g.65632434_65632437del	GRCh37
NC_000012.10:g.63918701_63918704del	NCBI36
NG_016210.1:g.74084_74087del
NG_016210.2:g.74084_74087del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308330.3:c.1776-15_1776-12del MANE Select	ENSP00000308369.2:n.1776-15_1776-12del
ENST00000308330.2:c.1776-15_1776-12del	ENSP00000308369.2:n.1776-15_1776-12del
NM_001167614.1:c.1773-15_1773-12del	NP_001161086.1:n.1773-15_1773-12del
NM_014319.4:c.1776-15_1776-12del	NP_055134.2:n.1776-15_1776-12del
NM_014319.5:c.1776-15_1776-12del MANE Select	NP_055134.2:n.1776-15_1776-12del
NM_001167614.2:c.1773-15_1773-12del	NP_001161086.1:n.1773-15_1773-12del