Canonical Allele Identifier: CA2580095531
Gene: LAMA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2102265
ClinVar RCV Id: RCV003019437

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23928250dup , CM000680.2:g.23928250dup GRCh38
NC_000018.9:g.21508214dup , CM000680.1:g.21508214dup GRCh37
NC_000018.8:g.19762212dup NCBI36
NG_007853.2:g.243653dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000269217.11:c.3468+10dup MANE Plus Clinical ENSP00000269217.5:n.3468+10dup
ENST00000313654.14:c.8295+10dup MANE Select ENSP00000324532.8:n.8295+10dup
ENST00000649721.1:c.4890+10dup ENSP00000497885.1:n.4890+10dup
ENST00000269217.10:c.3468+10dup ENSP00000269217.5:n.3468+10dup
ENST00000313654.13:c.8295+10dup ENSP00000324532.8:n.8295+10dup
ENST00000399516.7:c.8127+10dup ENSP00000382432.2:n.8127+10dup
ENST00000586751.5:c.3073+10dup
ENST00000587184.5:c.3300+10dup ENSP00000466557.1:n.3300+10dup
ENST00000588770.5:n.2873+10dup
NM_000227.4:c.3468+10dup NP_000218.3:n.3468+10dup
NM_001127717.2:c.8127+10dup NP_001121189.2:n.8127+10dup
NM_001127718.2:c.3300+10dup NP_001121190.2:n.3300+10dup
NM_198129.2:c.8295+10dup NP_937762.2:n.8295+10dup
XM_011525978.1:c.8322+10dup XP_011524280.1:n.8322+10dup
XM_011525979.1:c.8313+10dup XP_011524281.1:n.8313+10dup
XM_011525980.1:c.8304+10dup XP_011524282.1:n.8304+10dup
XM_011525981.1:c.8190+10dup XP_011524283.1:n.8190+10dup
XM_011525982.1:c.8025+10dup XP_011524284.1:n.8025+10dup
XM_011525978.2:c.8322+10dup XP_011524280.1:n.8322+10dup
XM_011525979.2:c.8313+10dup XP_011524281.1:n.8313+10dup
XM_011525980.2:c.8304+10dup XP_011524282.1:n.8304+10dup
XM_011525981.2:c.8190+10dup XP_011524283.1:n.8190+10dup
XM_011525982.2:c.8025+10dup XP_011524284.1:n.8025+10dup
XM_017025743.1:c.6174+10dup XP_016881232.1:n.6174+10dup
XM_017025744.1:c.3864+10dup XP_016881233.1:n.3864+10dup
XR_001753199.1:n.8563+10dup
NM_000227.5:c.3468+10dup NP_000218.3:n.3468+10dup
NM_001127717.3:c.8127+10dup NP_001121189.2:n.8127+10dup
NM_001127718.3:c.3300+10dup NP_001121190.2:n.3300+10dup
NM_198129.3:c.8295+10dup NP_937762.2:n.8295+10dup
NM_000227.6:c.3468+10dup MANE Plus Clinical NP_000218.3:n.3468+10dup
NM_001127717.4:c.8127+10dup NP_001121189.2:n.8127+10dup
NM_001127718.4:c.3300+10dup NP_001121190.2:n.3300+10dup
NM_198129.4:c.8295+10dup MANE Select NP_937762.2:n.8295+10dup