Canonical Allele Identifier: CA2580098379
Gene: LAMA5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.62330821_62330822delinsTG , CM000682.2:g.62330821_62330822delinsTG GRCh38
NC_000020.10:g.60905877_60905878delinsTG , CM000682.1:g.60905877_60905878delinsTG GRCh37
NC_000020.9:g.60339272_60339273delinsTG NCBI36
NG_050626.1:g.41499_41500delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252999.7:c.3773_3774delinsCA MANE Select ENSP00000252999.3:p.Met1258Thr
NM_005560.4:c.3773_3774delinsCA NP_005551.3:p.Met1258Thr
XM_006723796.2:c.3773_3774delinsCA XP_006723859.1:p.Met1258Thr
XM_006723798.2:c.3773_3774delinsCA XP_006723861.1:p.Met1258Thr
XM_011528818.1:c.3635_3636delinsCA XP_011527120.1:p.Met1212Thr
XM_011528819.1:c.3500_3501delinsCA XP_011527121.1:p.Met1167Thr
XR_936532.1:n.3845_3846delinsCA
XM_006723796.3:c.3773_3774delinsCA XP_006723859.1:p.Met1258Thr
XM_006723798.3:c.3773_3774delinsCA XP_006723861.1:p.Met1258Thr
XM_011528818.2:c.3635_3636delinsCA XP_011527120.1:p.Met1212Thr
XM_011528819.2:c.3500_3501delinsCA XP_011527121.1:p.Met1167Thr
XR_936532.2:n.3844_3845delinsCA
NM_005560.5:c.3773_3774delinsCA NP_005551.3:p.Met1258Thr
NM_005560.6:c.3773_3774delinsCA MANE Select NP_005551.3:p.Met1258Thr