Canonical Allele Identifier: CA2282694530

Gene: LAMA1

Linked Data

• dbSNP Id: rs2057883528
• gnomAD v4: 18-7015593-T-TTG

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.7015594_7015595insGT , CM000680.2:g.7015594_7015595insGT	GRCh38
NC_000018.9:g.7015593_7015594insGT , CM000680.1:g.7015593_7015594insGT	GRCh37
NC_000018.8:g.7005593_7005594insGT	NCBI36
NG_034251.1:g.107221_107222insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389658.4:c.3126+128_3126+129insCA MANE Select	ENSP00000374309.3:n.3126+128_3126+129insCA
ENST00000389658.3:c.3126+128_3126+129insCA	ENSP00000374309.3:n.3126+128_3126+129insCA
ENST00000579014.5:n.4141+128_4141+129insCA
NM_005559.3:c.3126+128_3126+129insCA	NP_005550.2:n.3126+128_3126+129insCA
XM_011525655.1:c.3126+128_3126+129insCA	XP_011523957.1:n.3126+128_3126+129insCA
XM_011525656.1:c.1554+128_1554+129insCA	XP_011523958.1:n.1554+128_1554+129insCA
XM_011525657.1:c.3126+128_3126+129insCA	XP_011523959.1:n.3126+128_3126+129insCA
XM_011525655.2:c.3126+128_3126+129insCA	XP_011523957.1:n.3126+128_3126+129insCA
XM_011525656.2:c.1554+128_1554+129insCA	XP_011523958.1:n.1554+128_1554+129insCA
NM_005559.4:c.3126+128_3126+129insCA MANE Select	NP_005550.2:n.3126+128_3126+129insCA