Canonical Allele Identifier: CA2282694485

Gene: LAMA1

Linked Data

• dbSNP Id: rs2057883039
• gnomAD v3: 18-7015519-ATCC-A
• gnomAD v4: 18-7015519-ATCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.7015524_7015526del , CM000680.2:g.7015524_7015526del	GRCh38
NC_000018.9:g.7015523_7015525del , CM000680.1:g.7015523_7015525del	GRCh37
NC_000018.8:g.7005523_7005525del	NCBI36
NG_034251.1:g.107293_107295del

Transcript Alleles

HGVS	Amino-acid change
ENST00000389658.4:c.3126+200_3126+202del MANE Select	ENSP00000374309.3:n.3126+200_3126+202del
ENST00000389658.3:c.3126+200_3126+202del	ENSP00000374309.3:n.3126+200_3126+202del
ENST00000579014.5:n.4141+200_4141+202del
NM_005559.3:c.3126+200_3126+202del	NP_005550.2:n.3126+200_3126+202del
XM_011525655.1:c.3126+200_3126+202del	XP_011523957.1:n.3126+200_3126+202del
XM_011525656.1:c.1554+200_1554+202del	XP_011523958.1:n.1554+200_1554+202del
XM_011525657.1:c.3126+200_3126+202del	XP_011523959.1:n.3126+200_3126+202del
XM_011525655.2:c.3126+200_3126+202del	XP_011523957.1:n.3126+200_3126+202del
XM_011525656.2:c.1554+200_1554+202del	XP_011523958.1:n.1554+200_1554+202del
NM_005559.4:c.3126+200_3126+202del MANE Select	NP_005550.2:n.3126+200_3126+202del