Canonical Allele Identifier: CA2580098341
Gene: LAMA5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.62312525_62312526delinsAC , CM000682.2:g.62312525_62312526delinsAC GRCh38
NC_000020.10:g.60887581_60887582delinsAC , CM000682.1:g.60887581_60887582delinsAC GRCh37
NC_000020.9:g.60320976_60320977delinsAC NCBI36
NG_050626.1:g.59795_59796delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252999.7:c.9234_9235delinsGT MANE Select ENSP00000252999.3:p.Arg3079Trp
ENST00000370691.6:n.1183_1184delinsGT
ENST00000491036.2:n.337_338delinsGT
NM_005560.4:c.9234_9235delinsGT NP_005551.3:p.Arg3079Trp
XM_006723796.2:c.9234_9235delinsGT XP_006723859.1:p.Arg3079Trp
XM_011528818.1:c.9096_9097delinsGT XP_011527120.1:p.Arg3033Trp
XM_011528819.1:c.8961_8962delinsGT XP_011527121.1:p.Arg2988Trp
XR_936532.1:n.9306_9307delinsGT
XM_006723796.3:c.9234_9235delinsGT XP_006723859.1:p.Arg3079Trp
XM_011528818.2:c.9096_9097delinsGT XP_011527120.1:p.Arg3033Trp
XM_011528819.2:c.8961_8962delinsGT XP_011527121.1:p.Arg2988Trp
XR_936532.2:n.9305_9306delinsGT
NM_005560.5:c.9234_9235delinsGT NP_005551.3:p.Arg3079Trp
NM_005560.6:c.9234_9235delinsGT MANE Select NP_005551.3:p.Arg3079Trp