Canonical Allele Identifier: CA818844894
Gene: LAMA2 HGNC NCBI

Linked Data

dbSNP Id: rs1161022886
gnomAD v4: 6-129465434-AGATTATAGGT-A
MyVariant Identifiers: chr6:g.129786580_129786589del (hg19) chr6:g.129465435_129465444del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129465439_129465448del , CM000668.2:g.129465439_129465448del GRCh38
NC_000006.11:g.129786584_129786593del , CM000668.1:g.129786584_129786593del GRCh37
NC_000006.10:g.129828277_129828286del NCBI36
NG_008678.1:g.587299_587308del , LRG_409:g.587299_587308del

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.7300+150_7300+159del ENSP00000481744.2:n.7300+150_7300+159del
ENST00000618192.5:c.7564+150_7564+159del ENSP00000480802.2:n.7564+150_7564+159del
ENST00000684985.1:n.931+150_931+159del
ENST00000421865.3:c.7300+150_7300+159del MANE Select ENSP00000400365.2:n.7300+150_7300+159del
ENST00000421865.2:c.7300+150_7300+159del ENSP00000400365.2:n.7300+150_7300+159del
ENST00000617695.4:c.7300+150_7300+159del ENSP00000481744.1:n.7300+150_7300+159del
ENST00000618192.4:c.7297+150_7297+159del ENSP00000480802.1:n.7297+150_7297+159del
NM_000426.3:c.7300+150_7300+159del , LRG_409t1:c.7300+150_7300+159del NP_000417.2:n.7300+150_7300+159del
NM_001079823.1:c.7300+150_7300+159del NP_001073291.1:n.7300+150_7300+159del
XM_005266981.2:c.7564+150_7564+159del XP_005267038.1:n.7564+150_7564+159del
XM_005266982.2:c.7564+150_7564+159del XP_005267039.1:n.7564+150_7564+159del
XM_011535820.1:c.7558+150_7558+159del XP_011534122.1:n.7558+150_7558+159del
XM_005266981.3:c.7564+150_7564+159del XP_005267038.1:n.7564+150_7564+159del
XM_005266982.3:c.7564+150_7564+159del XP_005267039.1:n.7564+150_7564+159del
XM_011535820.2:c.7558+150_7558+159del XP_011534122.1:n.7558+150_7558+159del
XM_017010851.2:c.7570+150_7570+159del XP_016866340.1:n.7570+150_7570+159del
XM_017010852.1:c.5695+150_5695+159del XP_016866341.1:n.5695+150_5695+159del
NM_000426.4:c.7300+150_7300+159del MANE Select NP_000417.3:n.7300+150_7300+159del
NM_001079823.2:c.7300+150_7300+159del NP_001073291.2:n.7300+150_7300+159del
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