Canonical Allele Identifier: CA2573140408

Gene: LAMA4

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.112141345G>T , CM000668.2:g.112141345G>T	GRCh38
NC_000006.11:g.112462547G>T , CM000668.1:g.112462547G>T	GRCh37
NC_000006.10:g.112569240G>T	NCBI36
NG_008209.1:g.118282C>A , LRG_433:g.118282C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001105206.3:c.2813+13C>A MANE Select	NP_001098676.2:n.2813+13C>A
ENST00000230538.12:c.2813+13C>A MANE Select	ENSP00000230538.7:n.2813+13C>A
NM_001105206.2:c.2813+13C>A	NP_001098676.2:n.2813+13C>A
NM_001105207.2:c.2792+13C>A	NP_001098677.2:n.2792+13C>A
NM_001105207.3:c.2792+13C>A	NP_001098677.2:n.2792+13C>A
NM_002290.4:c.2792+13C>A	NP_002281.3:n.2792+13C>A
NM_002290.5:c.2792+13C>A	NP_002281.3:n.2792+13C>A
ENST00000230538.11:c.2813+13C>A	ENSP00000230538.7:n.2813+13C>A
ENST00000389463.8:c.2792+13C>A	ENSP00000374114.4:n.2792+13C>A
ENST00000389463.9:c.2792+13C>A	ENSP00000374114.4:n.2792+13C>A
ENST00000424408.6:c.2792+13C>A	ENSP00000416470.2:n.2792+13C>A
ENST00000522006.5:c.2792+13C>A	ENSP00000429488.1:n.2792+13C>A
ENST00000651860.1:c.683+13C>A	ENSP00000498842.1:n.683+13C>A
XM_005266983.3:c.2813+13C>A	XP_005267040.2:n.2813+13C>A
XM_005266983.4:c.2813+13C>A	XP_005267040.2:n.2813+13C>A
XM_005266984.3:c.2813+13C>A	XP_005267041.2:n.2813+13C>A
XM_005266984.4:c.2813+13C>A	XP_005267041.2:n.2813+13C>A
XM_011535821.1:c.2813+13C>A	XP_011534123.1:n.2813+13C>A
XM_017010854.2:c.2792+13C>A	XP_016866343.1:n.2792+13C>A
XR_001743406.2:n.3084+13C>A
XR_001743407.2:n.3063+13C>A
XR_001744299.1:n.429-13975G>T