Canonical Allele Identifier: CA628685880

Gene: LAMA3

Linked Data

• dbSNP Id: rs1437265214
• gnomAD v2: 18-21508195-AG-A
• gnomAD v3: 18-23928231-AG-A
• gnomAD v4: 18-23928231-AG-A
• MyVariant Identifiers: chr18:g.21508196del (hg19) ; chr18:g.23928232del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23928232del , CM000680.2:g.23928232del	GRCh38
NC_000018.9:g.21508196del , CM000680.1:g.21508196del	GRCh37
NC_000018.8:g.19762194del	NCBI36
NG_007853.2:g.243635del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.3460del MANE Plus Clinical	ENSP00000269217.5:p.Asp1154ThrfsTer16
ENST00000313654.14:c.8287del MANE Select	ENSP00000324532.8:p.Asp2763ThrfsTer16
ENST00000649721.1:c.4882del	ENSP00000497885.1:p.Asp1628ThrfsTer16
ENST00000269217.10:c.3460del	ENSP00000269217.5:p.Asp1154ThrfsTer16
ENST00000313654.13:c.8287del	ENSP00000324532.8:p.Asp2763ThrfsTer16
ENST00000399516.7:c.8119del	ENSP00000382432.2:p.Asp2707ThrfsTer16
ENST00000586751.5:c.3065del
ENST00000587184.5:c.3292del	ENSP00000466557.1:p.Asp1098ThrfsTer16
ENST00000588770.5:n.2865del
NM_000227.4:c.3460del	NP_000218.3:p.Asp1154ThrfsTer16
NM_001127717.2:c.8119del	NP_001121189.2:p.Asp2707ThrfsTer16
NM_001127718.2:c.3292del	NP_001121190.2:p.Asp1098ThrfsTer16
NM_198129.2:c.8287del	NP_937762.2:p.Asp2763ThrfsTer16
XM_011525978.1:c.8314del	XP_011524280.1:p.Asp2772ThrfsTer16
XM_011525979.1:c.8305del	XP_011524281.1:p.Asp2769ThrfsTer16
XM_011525980.1:c.8296del	XP_011524282.1:p.Asp2766ThrfsTer16
XM_011525981.1:c.8182del	XP_011524283.1:p.Asp2728ThrfsTer16
XM_011525982.1:c.8017del	XP_011524284.1:p.Asp2673ThrfsTer16
XM_011525978.2:c.8314del	XP_011524280.1:p.Asp2772ThrfsTer16
XM_011525979.2:c.8305del	XP_011524281.1:p.Asp2769ThrfsTer16
XM_011525980.2:c.8296del	XP_011524282.1:p.Asp2766ThrfsTer16
XM_011525981.2:c.8182del	XP_011524283.1:p.Asp2728ThrfsTer16
XM_011525982.2:c.8017del	XP_011524284.1:p.Asp2673ThrfsTer16
XM_017025743.1:c.6166del	XP_016881232.1:p.Asp2056ThrfsTer16
XM_017025744.1:c.3856del	XP_016881233.1:p.Asp1286ThrfsTer16
XR_001753199.1:n.8555del
NM_000227.5:c.3460del	NP_000218.3:p.Asp1154ThrfsTer16
NM_001127717.3:c.8119del	NP_001121189.2:p.Asp2707ThrfsTer16
NM_001127718.3:c.3292del	NP_001121190.2:p.Asp1098ThrfsTer16
NM_198129.3:c.8287del	NP_937762.2:p.Asp2763ThrfsTer16
NM_000227.6:c.3460del MANE Plus Clinical	NP_000218.3:p.Asp1154ThrfsTer16
NM_001127717.4:c.8119del	NP_001121189.2:p.Asp2707ThrfsTer16
NM_001127718.4:c.3292del	NP_001121190.2:p.Asp1098ThrfsTer16
NM_198129.4:c.8287del MANE Select	NP_937762.2:p.Asp2763ThrfsTer16