Canonical Allele Identifier: CA628132813

Gene: LAMA1

Linked Data

• dbSNP Id: rs1451710423
• gnomAD v2: 18-7015599-T-TC
• gnomAD v3: 18-7015600-T-TC
• gnomAD v4: 18-7015600-T-TC
• MyVariant Identifiers: chr18:g.7015599_7015600insC (hg19) ; chr18:g.7015600_7015601insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.7015600_7015601insC , CM000680.2:g.7015600_7015601insC	GRCh38
NC_000018.9:g.7015599_7015600insC , CM000680.1:g.7015599_7015600insC	GRCh37
NC_000018.8:g.7005599_7005600insC	NCBI36
NG_034251.1:g.107214_107215insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389658.4:c.3126+121_3126+122insG MANE Select	ENSP00000374309.3:n.3126+121_3126+122insG
ENST00000389658.3:c.3126+121_3126+122insG	ENSP00000374309.3:n.3126+121_3126+122insG
ENST00000579014.5:n.4141+121_4141+122insG
NM_005559.3:c.3126+121_3126+122insG	NP_005550.2:n.3126+121_3126+122insG
XM_011525655.1:c.3126+121_3126+122insG	XP_011523957.1:n.3126+121_3126+122insG
XM_011525656.1:c.1554+121_1554+122insG	XP_011523958.1:n.1554+121_1554+122insG
XM_011525657.1:c.3126+121_3126+122insG	XP_011523959.1:n.3126+121_3126+122insG
XM_011525655.2:c.3126+121_3126+122insG	XP_011523957.1:n.3126+121_3126+122insG
XM_011525656.2:c.1554+121_1554+122insG	XP_011523958.1:n.1554+121_1554+122insG
NM_005559.4:c.3126+121_3126+122insG MANE Select	NP_005550.2:n.3126+121_3126+122insG