Canonical Allele Identifier: CA2552777410
Gene: LAMA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.112148094_112148095del , CM000668.2:g.112148094_112148095del GRCh38
NC_000006.11:g.112469296_112469297del , CM000668.1:g.112469296_112469297del GRCh37
NC_000006.10:g.112575989_112575990del NCBI36
NG_008209.1:g.111532_111533del , LRG_433:g.111532_111533del

Transcript Alleles

HGVS Amino-acid Change
ENST00000230538.12:c.2353+62_2353+63del MANE Select ENSP00000230538.7:n.2353+62_2353+63del
ENST00000389463.9:c.2332+62_2332+63del ENSP00000374114.4:n.2332+62_2332+63del
ENST00000651860.1:c.223+62_223+63del ENSP00000498842.1:n.223+62_223+63del
ENST00000230538.11:c.2353+62_2353+63del ENSP00000230538.7:n.2353+62_2353+63del
ENST00000389463.8:c.2332+62_2332+63del ENSP00000374114.4:n.2332+62_2332+63del
ENST00000424408.6:c.2332+62_2332+63del ENSP00000416470.2:n.2332+62_2332+63del
ENST00000522006.5:c.2332+62_2332+63del ENSP00000429488.1:n.2332+62_2332+63del
ENST00000523765.1:c.765+62_765+63del
NM_001105206.2:c.2353+62_2353+63del NP_001098676.2:n.2353+62_2353+63del
NM_001105207.2:c.2332+62_2332+63del NP_001098677.2:n.2332+62_2332+63del
NM_002290.4:c.2332+62_2332+63del NP_002281.3:n.2332+62_2332+63del
XM_005266983.3:c.2353+62_2353+63del XP_005267040.2:n.2353+62_2353+63del
XM_005266984.3:c.2353+62_2353+63del XP_005267041.2:n.2353+62_2353+63del
XM_011535821.1:c.2353+62_2353+63del XP_011534123.1:n.2353+62_2353+63del
XM_005266983.4:c.2353+62_2353+63del XP_005267040.2:n.2353+62_2353+63del
XM_005266984.4:c.2353+62_2353+63del XP_005267041.2:n.2353+62_2353+63del
XM_017010854.2:c.2332+62_2332+63del XP_016866343.1:n.2332+62_2332+63del
XR_001743406.2:n.2624+62_2624+63del
XR_001743407.2:n.2603+62_2603+63del
XR_001744299.1:n.429-7226_429-7225del
NM_001105206.3:c.2353+62_2353+63del MANE Select NP_001098676.2:n.2353+62_2353+63del
NM_001105207.3:c.2332+62_2332+63del NP_001098677.2:n.2332+62_2332+63del
NM_002290.5:c.2332+62_2332+63del NP_002281.3:n.2332+62_2332+63del