Canonical Allele Identifier: CA238915728

Gene: LEMD3

Linked Data

• dbSNP Id: rs902065934
• gnomAD v3: 12-65246060-CTTTA-C
• gnomAD v4: 12-65246060-CTTTA-C
• MyVariant Identifiers: chr12:g.65639841_65639844del (hg19) ; chr12:g.65246061_65246064del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65246066_65246069del , CM000674.2:g.65246066_65246069del	GRCh38
NC_000012.11:g.65639846_65639849del , CM000674.1:g.65639846_65639849del	GRCh37
NC_000012.10:g.63926113_63926116del	NCBI36
NG_016210.1:g.81496_81499del
NG_016210.2:g.81496_81499del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308330.3:c.2573-96_2573-93del MANE Select	ENSP00000308369.2:n.2573-96_2573-93del
ENST00000308330.2:c.2573-96_2573-93del	ENSP00000308369.2:n.2573-96_2573-93del
ENST00000539442.1:n.555-96_555-93del
ENST00000544506.1:n.293-96_293-93del
ENST00000545026.1:n.391-96_391-93del
NM_001167614.1:c.2570-96_2570-93del	NP_001161086.1:n.2570-96_2570-93del
NM_014319.4:c.2573-96_2573-93del	NP_055134.2:n.2573-96_2573-93del
NM_014319.5:c.2573-96_2573-93del MANE Select	NP_055134.2:n.2573-96_2573-93del
NM_001167614.2:c.2570-96_2570-93del	NP_001161086.1:n.2570-96_2570-93del