Canonical Allele Identifier: CA10588988

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 266109
• ClinVar RCV Id: RCV000256450
• dbSNP Id: rs1554301637
• MyVariant Identifiers: chr6:g.129785435_129785597del (hg19) ; chr6:g.129464290_129464452del (hg38)
• PubMed: PMID:26104111

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129464290_129464452del , CM000668.2:g.129464290_129464452del	GRCh38
NC_000006.11:g.129785435_129785597del , CM000668.1:g.129785435_129785597del	GRCh37
NC_000006.10:g.129827128_129827290del	NCBI36
NG_008678.1:g.586150_586312del , LRG_409:g.586150_586312del

Transcript Alleles

HGVS	Amino-acid change
ENST00000617695.5:c.6993_7155del
ENST00000618192.5:c.7257_7419del
ENST00000684985.1:n.624_786del
ENST00000688150.1:n.332_494del
ENST00000421865.3:c.6993_7155del
ENST00000421865.2:c.6993_7155del
ENST00000617695.4:c.6993_7155del
ENST00000618192.4:c.6990_7152del
NM_000426.3:c.6993_7155del , LRG_409t1:c.6993_7155del
NM_001079823.1:c.6993_7155del
XM_005266981.2:c.7257_7419del
XM_005266982.2:c.7257_7419del
XM_011535820.1:c.7251_7413del
XM_005266981.3:c.7257_7419del
XM_005266982.3:c.7257_7419del
XM_011535820.2:c.7251_7413del
XM_017010851.2:c.7263_7425del
XM_017010852.1:c.5388_5550del
NM_000426.4:c.6993_7155del
NM_001079823.2:c.6993_7155del