Canonical Allele Identifier: CA605710086

Gene: LEMD3

Linked Data

• dbSNP Id: rs1445650926
• gnomAD v2: 12-65639755-ATAGT-A
• gnomAD v4: 12-65245975-ATAGT-A
• MyVariant Identifiers: chr12:g.65639756_65639759del (hg19) ; chr12:g.65245976_65245979del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65245978_65245981del , CM000674.2:g.65245978_65245981del	GRCh38
NC_000012.11:g.65639758_65639761del , CM000674.1:g.65639758_65639761del	GRCh37
NC_000012.10:g.63926025_63926028del	NCBI36
NG_016210.1:g.81408_81411del
NG_016210.2:g.81408_81411del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308330.3:c.2572+39_2572+42del MANE Select	ENSP00000308369.2:n.2572+39_2572+42del
ENST00000308330.2:c.2572+39_2572+42del	ENSP00000308369.2:n.2572+39_2572+42del
ENST00000539442.1:n.554+39_554+42del
ENST00000544506.1:n.292+39_292+42del
ENST00000545026.1:n.390+39_390+42del
NM_001167614.1:c.2569+39_2569+42del	NP_001161086.1:n.2569+39_2569+42del
NM_014319.4:c.2572+39_2572+42del	NP_055134.2:n.2572+39_2572+42del
NM_014319.5:c.2572+39_2572+42del MANE Select	NP_055134.2:n.2572+39_2572+42del
NM_001167614.2:c.2569+39_2569+42del	NP_001161086.1:n.2569+39_2569+42del