Canonical Allele Identifier: CA8915892

Gene: LAMA3

Linked Data

• dbSNP Id: rs755385406
• ExAC: 18:21456406 CA / C
• gnomAD v2: 18-21456406-CA-C
• gnomAD v4: 18-23876442-CA-C
• MyVariant Identifiers: chr18:g.21456407del (hg19) ; chr18:g.23876443del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23876444del , CM000680.2:g.23876444del	GRCh38
NC_000018.9:g.21456408del , CM000680.1:g.21456408del	GRCh37
NC_000018.8:g.19710406del	NCBI36
NG_007853.2:g.191847del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.285+37del MANE Plus Clinical	ENSP00000269217.5:n.285+37del
ENST00000313654.14:c.5112+37del MANE Select	ENSP00000324532.8:n.5112+37del
ENST00000649721.1:c.2004+37del	ENSP00000497885.1:n.2004+37del
ENST00000269217.10:c.285+37del	ENSP00000269217.5:n.285+37del
ENST00000313654.13:c.5112+37del	ENSP00000324532.8:n.5112+37del
ENST00000399516.7:c.5112+37del	ENSP00000382432.2:n.5112+37del
ENST00000587184.5:c.285+37del	ENSP00000466557.1:n.285+37del
NM_000227.4:c.285+37del	NP_000218.3:n.285+37del
NM_001127717.2:c.5112+37del	NP_001121189.2:n.5112+37del
NM_001127718.2:c.285+37del	NP_001121190.2:n.285+37del
NM_198129.2:c.5112+37del	NP_937762.2:n.5112+37del
XM_011525978.1:c.5139+37del	XP_011524280.1:n.5139+37del
XM_011525979.1:c.5130+37del	XP_011524281.1:n.5130+37del
XM_011525980.1:c.5121+37del	XP_011524282.1:n.5121+37del
XM_011525981.1:c.5007+37del	XP_011524283.1:n.5007+37del
XM_011525982.1:c.5139+37del	XP_011524284.1:n.5139+37del
XM_011525978.2:c.5139+37del	XP_011524280.1:n.5139+37del
XM_011525979.2:c.5130+37del	XP_011524281.1:n.5130+37del
XM_011525980.2:c.5121+37del	XP_011524282.1:n.5121+37del
XM_011525981.2:c.5007+37del	XP_011524283.1:n.5007+37del
XM_011525982.2:c.5139+37del	XP_011524284.1:n.5139+37del
XM_017025743.1:c.2991+37del	XP_016881232.1:n.2991+37del
XM_017025744.1:c.681+37del	XP_016881233.1:n.681+37del
XR_001753199.1:n.5380+37del
NM_000227.5:c.285+37del	NP_000218.3:n.285+37del
NM_001127717.3:c.5112+37del	NP_001121189.2:n.5112+37del
NM_001127718.3:c.285+37del	NP_001121190.2:n.285+37del
NM_198129.3:c.5112+37del	NP_937762.2:n.5112+37del
NM_000227.6:c.285+37del MANE Plus Clinical	NP_000218.3:n.285+37del
NM_001127717.4:c.5112+37del	NP_001121189.2:n.5112+37del
NM_001127718.4:c.285+37del	NP_001121190.2:n.285+37del
NM_198129.4:c.5112+37del MANE Select	NP_937762.2:n.5112+37del