Canonical Allele Identifier: CA8917195

Gene: LAMA3

Linked Data

• dbSNP Id: rs750642494
• ExAC: 18:21529878 TGTC / T
• MyVariant Identifiers: chr18:g.21529879_21529881del (hg19) ; chr18:g.23949915_23949917del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23949918_23949920del , CM000680.2:g.23949918_23949920del	GRCh38
NC_000018.9:g.21529882_21529884del , CM000680.1:g.21529882_21529884del	GRCh37
NC_000018.8:g.19783880_19783882del	NCBI36
NG_007853.2:g.265321_265323del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.4678_4680del MANE Plus Clinical	ENSP00000269217.5:p.Val1560del
ENST00000313654.14:c.9505_9507del MANE Select	ENSP00000324532.8:p.Val3169del
ENST00000649721.1:c.6100_6102del	ENSP00000497885.1:p.Val2034del
ENST00000269217.10:c.4678_4680del	ENSP00000269217.5:p.Val1560del
ENST00000313654.13:c.9505_9507del	ENSP00000324532.8:p.Val3169del
ENST00000399516.7:c.9337_9339del	ENSP00000382432.2:p.Val3113del
ENST00000587184.5:c.4510_4512del	ENSP00000466557.1:p.Val1504del
ENST00000588004.1:c.26_28del
ENST00000588770.5:n.4083_4085del
NM_000227.4:c.4678_4680del	NP_000218.3:p.Val1560del
NM_001127717.2:c.9337_9339del	NP_001121189.2:p.Val3113del
NM_001127718.2:c.4510_4512del	NP_001121190.2:p.Val1504del
NM_198129.2:c.9505_9507del	NP_937762.2:p.Val3169del
XM_011525978.1:c.9532_9534del	XP_011524280.1:p.Val3178del
XM_011525979.1:c.9523_9525del	XP_011524281.1:p.Val3175del
XM_011525980.1:c.9514_9516del	XP_011524282.1:p.Val3172del
XM_011525981.1:c.9400_9402del	XP_011524283.1:p.Val3134del
XM_011525982.1:c.9235_9237del	XP_011524284.1:p.Val3079del
XM_011525978.2:c.9532_9534del	XP_011524280.1:p.Val3178del
XM_011525979.2:c.9523_9525del	XP_011524281.1:p.Val3175del
XM_011525980.2:c.9514_9516del	XP_011524282.1:p.Val3172del
XM_011525981.2:c.9400_9402del	XP_011524283.1:p.Val3134del
XM_011525982.2:c.9235_9237del	XP_011524284.1:p.Val3079del
XM_017025743.1:c.7384_7386del	XP_016881232.1:p.Val2462del
XM_017025744.1:c.5074_5076del	XP_016881233.1:p.Val1692del
XR_001753199.1:n.9773_9775del
NM_000227.5:c.4678_4680del	NP_000218.3:p.Val1560del
NM_001127717.3:c.9337_9339del	NP_001121189.2:p.Val3113del
NM_001127718.3:c.4510_4512del	NP_001121190.2:p.Val1504del
NM_198129.3:c.9505_9507del	NP_937762.2:p.Val3169del
NM_000227.6:c.4678_4680del MANE Plus Clinical	NP_000218.3:p.Val1560del
NM_001127717.4:c.9337_9339del	NP_001121189.2:p.Val3113del
NM_001127718.4:c.4510_4512del	NP_001121190.2:p.Val1504del
NM_198129.4:c.9505_9507del MANE Select	NP_937762.2:p.Val3169del