Canonical Allele Identifier: CA6671261
Gene: LEMD3 HGNC NCBI

Linked Data

dbSNP Id: rs142666738
ExAC: 12:65639754 GATAGTT / G
gnomAD v2: 12-65639754-GATAGTT-G
gnomAD v3: 12-65245974-GATAGTT-G
gnomAD v4: 12-65245974-GATAGTT-G
MyVariant Identifiers: chr12:g.65639755_65639760del (hg19) chr12:g.65245976_65245981del (hg38) chr12:g.65245975_65245980del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65245981_65245986del , CM000674.2:g.65245981_65245986del GRCh38
NC_000012.11:g.65639761_65639766del , CM000674.1:g.65639761_65639766del GRCh37
NC_000012.10:g.63926028_63926033del NCBI36
NG_016210.1:g.81411_81416del
NG_016210.2:g.81411_81416del

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.2572+42_2572+47del MANE Select ENSP00000308369.2:n.2572+42_2572+47del
ENST00000308330.2:c.2572+42_2572+47del ENSP00000308369.2:n.2572+42_2572+47del
ENST00000539442.1:n.554+42_554+47del
ENST00000544506.1:n.292+42_292+47del
ENST00000545026.1:n.390+42_390+47del
NM_001167614.1:c.2569+42_2569+47del NP_001161086.1:n.2569+42_2569+47del
NM_014319.4:c.2572+42_2572+47del NP_055134.2:n.2572+42_2572+47del
NM_014319.5:c.2572+42_2572+47del MANE Select NP_055134.2:n.2572+42_2572+47del
NM_001167614.2:c.2569+42_2569+47del NP_001161086.1:n.2569+42_2569+47del
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