Canonical Allele Identifier: CA605709991

Gene: LEMD3

Linked Data

• dbSNP Id: rs1290837941
• gnomAD v2: 12-65632183-TTAAAA-T
• gnomAD v3: 12-65238403-TTAAAA-T
• gnomAD v4: 12-65238403-TTAAAA-T
• MyVariant Identifiers: chr12:g.65632184_65632188del (hg19) ; chr12:g.65238404_65238408del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65238409_65238413del , CM000674.2:g.65238409_65238413del	GRCh38
NC_000012.11:g.65632189_65632193del , CM000674.1:g.65632189_65632193del	GRCh37
NC_000012.10:g.63918456_63918460del	NCBI36
NG_016210.1:g.73839_73843del
NG_016210.2:g.73839_73843del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308330.3:c.1696-93_1696-89del MANE Select	ENSP00000308369.2:n.1696-93_1696-89del
ENST00000308330.2:c.1696-93_1696-89del	ENSP00000308369.2:n.1696-93_1696-89del
NM_001167614.1:c.1693-93_1693-89del	NP_001161086.1:n.1693-93_1693-89del
NM_014319.4:c.1696-93_1696-89del	NP_055134.2:n.1696-93_1696-89del
NM_014319.5:c.1696-93_1696-89del MANE Select	NP_055134.2:n.1696-93_1696-89del
NM_001167614.2:c.1693-93_1693-89del	NP_001161086.1:n.1693-93_1693-89del