Canonical Allele Identifier: CA2796331408
Gene: LEMD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65238745_65238746del , CM000674.2:g.65238745_65238746del GRCh38
NC_000012.11:g.65632525_65632526del , CM000674.1:g.65632525_65632526del GRCh37
NC_000012.10:g.63918792_63918793del NCBI36
NG_016210.1:g.74175_74176del
NG_016210.2:g.74175_74176del

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1852_1853del MANE Select ENSP00000308369.2:p.Met618ValfsTer?
ENST00000308330.2:c.1852_1853del ENSP00000308369.2:p.Met618ValfsTer?
NM_001167614.1:c.1849_1850del NP_001161086.1:p.Met617ValfsTer?
NM_014319.4:c.1852_1853del NP_055134.2:p.Met618ValfsTer?
NM_014319.5:c.1852_1853del MANE Select NP_055134.2:p.Met618ValfsTer?
NM_001167614.2:c.1849_1850del NP_001161086.1:p.Met617ValfsTer?