Canonical Allele Identifier: CA297091440

Gene: LAMA3

Linked Data

• dbSNP Id: rs975687162
• gnomAD v2: 18-21456495-AAT-A
• gnomAD v3: 18-23876531-AAT-A
• gnomAD v4: 18-23876531-AAT-A
• MyVariant Identifiers: chr18:g.21456496_21456497del (hg19) ; chr18:g.23876532_23876533del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23876536_23876537del , CM000680.2:g.23876536_23876537del	GRCh38
NC_000018.9:g.21456500_21456501del , CM000680.1:g.21456500_21456501del	GRCh37
NC_000018.8:g.19710498_19710499del	NCBI36
NG_007853.2:g.191939_191940del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.285+129_285+130del MANE Plus Clinical	ENSP00000269217.5:n.285+129_285+130del
ENST00000313654.14:c.5112+129_5112+130del MANE Select	ENSP00000324532.8:n.5112+129_5112+130del
ENST00000649721.1:c.2004+129_2004+130del	ENSP00000497885.1:n.2004+129_2004+130del
ENST00000269217.10:c.285+129_285+130del	ENSP00000269217.5:n.285+129_285+130del
ENST00000313654.13:c.5112+129_5112+130del	ENSP00000324532.8:n.5112+129_5112+130del
ENST00000399516.7:c.5112+129_5112+130del	ENSP00000382432.2:n.5112+129_5112+130del
ENST00000587184.5:c.285+129_285+130del	ENSP00000466557.1:n.285+129_285+130del
NM_000227.4:c.285+129_285+130del	NP_000218.3:n.285+129_285+130del
NM_001127717.2:c.5112+129_5112+130del	NP_001121189.2:n.5112+129_5112+130del
NM_001127718.2:c.285+129_285+130del	NP_001121190.2:n.285+129_285+130del
NM_198129.2:c.5112+129_5112+130del	NP_937762.2:n.5112+129_5112+130del
XM_011525978.1:c.5139+129_5139+130del	XP_011524280.1:n.5139+129_5139+130del
XM_011525979.1:c.5130+129_5130+130del	XP_011524281.1:n.5130+129_5130+130del
XM_011525980.1:c.5121+129_5121+130del	XP_011524282.1:n.5121+129_5121+130del
XM_011525981.1:c.5007+129_5007+130del	XP_011524283.1:n.5007+129_5007+130del
XM_011525982.1:c.5139+129_5139+130del	XP_011524284.1:n.5139+129_5139+130del
XM_011525978.2:c.5139+129_5139+130del	XP_011524280.1:n.5139+129_5139+130del
XM_011525979.2:c.5130+129_5130+130del	XP_011524281.1:n.5130+129_5130+130del
XM_011525980.2:c.5121+129_5121+130del	XP_011524282.1:n.5121+129_5121+130del
XM_011525981.2:c.5007+129_5007+130del	XP_011524283.1:n.5007+129_5007+130del
XM_011525982.2:c.5139+129_5139+130del	XP_011524284.1:n.5139+129_5139+130del
XM_017025743.1:c.2991+129_2991+130del	XP_016881232.1:n.2991+129_2991+130del
XM_017025744.1:c.681+129_681+130del	XP_016881233.1:n.681+129_681+130del
XR_001753199.1:n.5380+129_5380+130del
NM_000227.5:c.285+129_285+130del	NP_000218.3:n.285+129_285+130del
NM_001127717.3:c.5112+129_5112+130del	NP_001121189.2:n.5112+129_5112+130del
NM_001127718.3:c.285+129_285+130del	NP_001121190.2:n.285+129_285+130del
NM_198129.3:c.5112+129_5112+130del	NP_937762.2:n.5112+129_5112+130del
NM_000227.6:c.285+129_285+130del MANE Plus Clinical	NP_000218.3:n.285+129_285+130del
NM_001127717.4:c.5112+129_5112+130del	NP_001121189.2:n.5112+129_5112+130del
NM_001127718.4:c.285+129_285+130del	NP_001121190.2:n.285+129_285+130del
NM_198129.4:c.5112+129_5112+130del MANE Select	NP_937762.2:n.5112+129_5112+130del