Canonical Allele Identifier: CA2042449570
Gene: LEMD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65188433_65188434delinsTG , CM000674.2:g.65188433_65188434delinsTG GRCh38
NC_000012.11:g.65582213_65582214delinsTG , CM000674.1:g.65582213_65582214delinsTG GRCh37
NC_000012.10:g.63868480_63868481delinsTG NCBI36
NG_016210.1:g.23863_23864delinsTG
NG_016210.2:g.23863_23864delinsTG

Transcript Alleles

HGVS Amino-acid change
ENST00000308330.3:c.1522+17315_1522+17316delinsTG MANE Select ENSP00000308369.2:n.1522+17315_1522+17316...
ENST00000308330.2:c.1522+17315_1522+17316delinsTG ENSP00000308369.2:n.1522+17315_1522+17316...
ENST00000541171.1:n.836+18015_836+18016delinsTG
NM_001167614.1:c.1522+17315_1522+17316delinsTG NP_001161086.1:n.1522+17315_1522+17316del...
NM_014319.4:c.1522+17315_1522+17316delinsTG NP_055134.2:n.1522+17315_1522+17316delins...
NM_014319.5:c.1522+17315_1522+17316delinsTG MANE Select NP_055134.2:n.1522+17315_1522+17316delins...
NM_001167614.2:c.1522+17315_1522+17316delinsTG NP_001161086.1:n.1522+17315_1522+17316del...