Canonical Allele Identifier: CA605654106
Gene: LEMD3 HGNC NCBI

Linked Data

dbSNP Id: rs1185052407
gnomAD v2: 12-65632574-GATT-G
gnomAD v3: 12-65238794-GATT-G
gnomAD v4: 12-65238794-GATT-G
MyVariant Identifiers: chr12:g.65632575_65632577del (hg19) chr12:g.65238795_65238797del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65238798_65238800del , CM000674.2:g.65238798_65238800del GRCh38
NC_000012.11:g.65632578_65632580del , CM000674.1:g.65632578_65632580del GRCh37
NC_000012.10:g.63918845_63918847del NCBI36
NG_016210.1:g.74228_74230del
NG_016210.2:g.74228_74230del

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1905_1907del MANE Select ENSP00000308369.2:p.Leu636del
ENST00000308330.2:c.1905_1907del ENSP00000308369.2:p.Leu636del
NM_001167614.1:c.1902_1904del NP_001161086.1:p.Leu635del
NM_014319.4:c.1905_1907del NP_055134.2:p.Leu636del
NM_014319.5:c.1905_1907del MANE Select NP_055134.2:p.Leu636del
NM_001167614.2:c.1902_1904del NP_001161086.1:p.Leu635del
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