Canonical Allele Identifier: CA605709974
Gene: LEMD3 HGNC NCBI

Linked Data

dbSNP Id: rs1565775656
gnomAD v2: 12-65563960-CGTG-C
gnomAD v4: 12-65170180-CGTG-C
MyVariant Identifiers: chr12:g.65563961_65563963del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65170185_65170187del , CM000674.2:g.65170185_65170187del GRCh38
NC_000012.11:g.65563965_65563967del , CM000674.1:g.65563965_65563967del GRCh37
NC_000012.10:g.63850232_63850234del NCBI36
NG_016210.1:g.5615_5617del
NG_016210.2:g.5615_5617del

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.589_591del MANE Select ENSP00000308369.2:p.Trp197del
ENST00000308330.2:c.589_591del ENSP00000308369.2:p.Trp197del
ENST00000541171.1:n.603_605del
NM_001167614.1:c.589_591del NP_001161086.1:p.Trp197del
NM_014319.4:c.589_591del NP_055134.2:p.Trp197del
NM_014319.5:c.589_591del MANE Select NP_055134.2:p.Trp197del
NM_001167614.2:c.589_591del NP_001161086.1:p.Trp197del
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