Canonical Allele Identifier: CA628678317

Gene: LAMA3

Linked Data

• dbSNP Id: rs1481514250
• gnomAD v2: 18-21444753-CT-C
• gnomAD v4: 18-23864789-CT-C
• MyVariant Identifiers: chr18:g.21444754del (hg19) ; chr18:g.23864790del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23864791del , CM000680.2:g.23864791del	GRCh38
NC_000018.9:g.21444755del , CM000680.1:g.21444755del	GRCh37
NC_000018.8:g.19698753del	NCBI36
NG_007853.2:g.180194del

Transcript Alleles

HGVS	Amino-acid change
ENST00000313654.14:c.4591del MANE Select	ENSP00000324532.8:p.Ser1531HisfsTer?
ENST00000649721.1:c.1483del	ENSP00000497885.1:p.Ser495HisfsTer?
ENST00000313654.13:c.4591del	ENSP00000324532.8:p.Ser1531HisfsTer?
ENST00000399516.7:c.4591del	ENSP00000382432.2:p.Ser1531HisfsTer?
NM_001127717.2:c.4591del	NP_001121189.2:p.Ser1531HisfsTer?
NM_198129.2:c.4591del	NP_937762.2:p.Ser1531HisfsTer?
XM_011525978.1:c.4618del	XP_011524280.1:p.Ser1540HisfsTer?
XM_011525979.1:c.4609del	XP_011524281.1:p.Ser1537HisfsTer?
XM_011525980.1:c.4600del	XP_011524282.1:p.Ser1534HisfsTer?
XM_011525981.1:c.4486del	XP_011524283.1:p.Ser1496HisfsTer?
XM_011525982.1:c.4618del	XP_011524284.1:p.Ser1540HisfsTer?
XM_011525978.2:c.4618del	XP_011524280.1:p.Ser1540HisfsTer?
XM_011525979.2:c.4609del	XP_011524281.1:p.Ser1537HisfsTer?
XM_011525980.2:c.4600del	XP_011524282.1:p.Ser1534HisfsTer?
XM_011525981.2:c.4486del	XP_011524283.1:p.Ser1496HisfsTer?
XM_011525982.2:c.4618del	XP_011524284.1:p.Ser1540HisfsTer?
XM_017025743.1:c.2470del	XP_016881232.1:p.Ser824HisfsTer?
XM_017025744.1:c.160del	XP_016881233.1:p.Ser54HisfsTer?
XR_001753199.1:n.4859del
NM_001127717.3:c.4591del	NP_001121189.2:p.Ser1531HisfsTer?
NM_198129.3:c.4591del	NP_937762.2:p.Ser1531HisfsTer?
NM_001127717.4:c.4591del	NP_001121189.2:p.Ser1531HisfsTer?
NM_198129.4:c.4591del MANE Select	NP_937762.2:p.Ser1531HisfsTer?