Canonical Allele Identifier: CA2573054632

Gene: LAMA3

Linked Data

• ClinVar Variation Id: 1323177
• ClinVar RCV Id: RCV001783541
• dbSNP Id: rs2144861585

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23876295_23876298del , CM000680.2:g.23876295_23876298del	GRCh38
NC_000018.9:g.21456259_21456262del , CM000680.1:g.21456259_21456262del	GRCh37
NC_000018.8:g.19710257_19710260del	NCBI36
NG_007853.2:g.191698_191701del

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.173_176del MANE Plus Clinical	ENSP00000269217.5:p.Gly58ValfsTer?
ENST00000313654.14:c.5000_5003del MANE Select	ENSP00000324532.8:p.Gly1667ValfsTer?
ENST00000649721.1:c.1892_1895del	ENSP00000497885.1:p.Gly631ValfsTer?
ENST00000269217.10:c.173_176del	ENSP00000269217.5:p.Gly58ValfsTer?
ENST00000313654.13:c.5000_5003del	ENSP00000324532.8:p.Gly1667ValfsTer?
ENST00000399516.7:c.5000_5003del	ENSP00000382432.2:p.Gly1667ValfsTer?
ENST00000587184.5:c.173_176del	ENSP00000466557.1:p.Gly58ValfsTer?
NM_000227.4:c.173_176del	NP_000218.3:p.Gly58ValfsTer?
NM_001127717.2:c.5000_5003del	NP_001121189.2:p.Gly1667ValfsTer?
NM_001127718.2:c.173_176del	NP_001121190.2:p.Gly58ValfsTer?
NM_198129.2:c.5000_5003del	NP_937762.2:p.Gly1667ValfsTer?
XM_011525978.1:c.5027_5030del	XP_011524280.1:p.Gly1676ValfsTer?
XM_011525979.1:c.5018_5021del	XP_011524281.1:p.Gly1673ValfsTer?
XM_011525980.1:c.5009_5012del	XP_011524282.1:p.Gly1670ValfsTer?
XM_011525981.1:c.4895_4898del	XP_011524283.1:p.Gly1632ValfsTer?
XM_011525982.1:c.5027_5030del	XP_011524284.1:p.Gly1676ValfsTer?
XM_011525978.2:c.5027_5030del	XP_011524280.1:p.Gly1676ValfsTer?
XM_011525979.2:c.5018_5021del	XP_011524281.1:p.Gly1673ValfsTer?
XM_011525980.2:c.5009_5012del	XP_011524282.1:p.Gly1670ValfsTer?
XM_011525981.2:c.4895_4898del	XP_011524283.1:p.Gly1632ValfsTer?
XM_011525982.2:c.5027_5030del	XP_011524284.1:p.Gly1676ValfsTer?
XM_017025743.1:c.2879_2882del	XP_016881232.1:p.Gly960ValfsTer?
XM_017025744.1:c.569_572del	XP_016881233.1:p.Gly190ValfsTer?
XR_001753199.1:n.5268_5271del
NM_000227.5:c.173_176del	NP_000218.3:p.Gly58ValfsTer?
NM_001127717.3:c.5000_5003del	NP_001121189.2:p.Gly1667ValfsTer?
NM_001127718.3:c.173_176del	NP_001121190.2:p.Gly58ValfsTer?
NM_198129.3:c.5000_5003del	NP_937762.2:p.Gly1667ValfsTer?
NM_000227.6:c.173_176del MANE Plus Clinical	NP_000218.3:p.Gly58ValfsTer?
NM_001127717.4:c.5000_5003del	NP_001121189.2:p.Gly1667ValfsTer?
NM_001127718.4:c.173_176del	NP_001121190.2:p.Gly58ValfsTer?
NM_198129.4:c.5000_5003del MANE Select	NP_937762.2:p.Gly1667ValfsTer?