Canonical Allele Identifier: CA948625834

Gene: LEMD3

Linked Data

• dbSNP Id: rs1871097260
• gnomAD v3: 12-65246134-CTAAAATATTATTTT-C
• gnomAD v4: 12-65246134-CTAAAATATTATTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65246137_65246150del , CM000674.2:g.65246137_65246150del	GRCh38
NC_000012.11:g.65639917_65639930del , CM000674.1:g.65639917_65639930del	GRCh37
NC_000012.10:g.63926184_63926197del	NCBI36
NG_016210.1:g.81567_81580del
NG_016210.2:g.81567_81580del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308330.3:c.2573-25_2573-12del MANE Select	ENSP00000308369.2:n.2573-25_2573-12del
ENST00000308330.2:c.2573-25_2573-12del	ENSP00000308369.2:n.2573-25_2573-12del
ENST00000539442.1:n.555-25_555-12del
ENST00000544506.1:n.293-25_293-12del
ENST00000545026.1:n.391-25_391-12del
NM_001167614.1:c.2570-25_2570-12del	NP_001161086.1:n.2570-25_2570-12del
NM_014319.4:c.2573-25_2573-12del	NP_055134.2:n.2573-25_2573-12del
NM_014319.5:c.2573-25_2573-12del MANE Select	NP_055134.2:n.2573-25_2573-12del
NM_001167614.2:c.2570-25_2570-12del	NP_001161086.1:n.2570-25_2570-12del