Canonical Allele Identifier: CA777752535

Gene: LAMA3

Linked Data

• dbSNP Id: rs1447890074
• gnomAD v3: 18-23903351-TCA-T
• gnomAD v4: 18-23903351-TCA-T
• MyVariant Identifiers: chr18:g.21483316_21483317del (hg19) ; chr18:g.23903352_23903353del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23903353_23903354del , CM000680.2:g.23903353_23903354del	GRCh38
NC_000018.9:g.21483317_21483318del , CM000680.1:g.21483317_21483318del	GRCh37
NC_000018.8:g.19737315_19737316del	NCBI36
NG_007853.2:g.218756_218757del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.1491+228_1491+229del MANE Plus Clinical	ENSP00000269217.5:n.1491+228_1491+229del
ENST00000313654.14:c.6318+228_6318+229del MANE Select	ENSP00000324532.8:n.6318+228_6318+229del
ENST00000649721.1:c.3210+228_3210+229del	ENSP00000497885.1:n.3210+228_3210+229del
ENST00000269217.10:c.1491+228_1491+229del	ENSP00000269217.5:n.1491+228_1491+229del
ENST00000313654.13:c.6318+228_6318+229del	ENSP00000324532.8:n.6318+228_6318+229del
ENST00000399516.7:c.6150+228_6150+229del	ENSP00000382432.2:n.6150+228_6150+229del
ENST00000586751.5:c.1096+228_1096+229del
ENST00000587184.5:c.1323+228_1323+229del	ENSP00000466557.1:n.1323+228_1323+229del
ENST00000588770.5:n.896+228_896+229del
NM_000227.4:c.1491+228_1491+229del	NP_000218.3:n.1491+228_1491+229del
NM_001127717.2:c.6150+228_6150+229del	NP_001121189.2:n.6150+228_6150+229del
NM_001127718.2:c.1323+228_1323+229del	NP_001121190.2:n.1323+228_1323+229del
NM_198129.2:c.6318+228_6318+229del	NP_937762.2:n.6318+228_6318+229del
XM_011525978.1:c.6345+228_6345+229del	XP_011524280.1:n.6345+228_6345+229del
XM_011525979.1:c.6336+228_6336+229del	XP_011524281.1:n.6336+228_6336+229del
XM_011525980.1:c.6327+228_6327+229del	XP_011524282.1:n.6327+228_6327+229del
XM_011525981.1:c.6213+228_6213+229del	XP_011524283.1:n.6213+228_6213+229del
XM_011525982.1:c.6345+228_6345+229del	XP_011524284.1:n.6345+228_6345+229del
XM_011525978.2:c.6345+228_6345+229del	XP_011524280.1:n.6345+228_6345+229del
XM_011525979.2:c.6336+228_6336+229del	XP_011524281.1:n.6336+228_6336+229del
XM_011525980.2:c.6327+228_6327+229del	XP_011524282.1:n.6327+228_6327+229del
XM_011525981.2:c.6213+228_6213+229del	XP_011524283.1:n.6213+228_6213+229del
XM_011525982.2:c.6345+228_6345+229del	XP_011524284.1:n.6345+228_6345+229del
XM_017025743.1:c.4197+228_4197+229del	XP_016881232.1:n.4197+228_4197+229del
XM_017025744.1:c.1887+228_1887+229del	XP_016881233.1:n.1887+228_1887+229del
XR_001753199.1:n.6586+228_6586+229del
NM_000227.5:c.1491+228_1491+229del	NP_000218.3:n.1491+228_1491+229del
NM_001127717.3:c.6150+228_6150+229del	NP_001121189.2:n.6150+228_6150+229del
NM_001127718.3:c.1323+228_1323+229del	NP_001121190.2:n.1323+228_1323+229del
NM_198129.3:c.6318+228_6318+229del	NP_937762.2:n.6318+228_6318+229del
NM_000227.6:c.1491+228_1491+229del MANE Plus Clinical	NP_000218.3:n.1491+228_1491+229del
NM_001127717.4:c.6150+228_6150+229del	NP_001121189.2:n.6150+228_6150+229del
NM_001127718.4:c.1323+228_1323+229del	NP_001121190.2:n.1323+228_1323+229del
NM_198129.4:c.6318+228_6318+229del MANE Select	NP_937762.2:n.6318+228_6318+229del