Canonical Allele Identifier: CA2640920287

Gene: LAMA1

Linked Data

• gnomAD v4: 18-7015783-C-CCGTCCTT

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.7015784_7015785insGTCCTTC , CM000680.2:g.7015784_7015785insGTCCTTC	GRCh38
NC_000018.9:g.7015783_7015784insGTCCTTC , CM000680.1:g.7015783_7015784insGTCCTTC	GRCh37
NC_000018.8:g.7005783_7005784insGTCCTTC	NCBI36
NG_034251.1:g.107031_107032insAAGGACG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389658.4:c.3064_3065insAAGGACG MANE Select	ENSP00000374309.3:p.Gly1022GlufsTer7
ENST00000389658.3:c.3064_3065insAAGGACG	ENSP00000374309.3:p.Gly1022GlufsTer7
ENST00000579014.5:n.4079_4080insAAGGACG
NM_005559.3:c.3064_3065insAAGGACG	NP_005550.2:p.Gly1022GlufsTer7
XM_011525655.1:c.3064_3065insAAGGACG	XP_011523957.1:p.Gly1022GlufsTer7
XM_011525656.1:c.1492_1493insAAGGACG	XP_011523958.1:p.Gly498GlufsTer7
XM_011525657.1:c.3064_3065insAAGGACG	XP_011523959.1:p.Gly1022GlufsTer7
XM_011525655.2:c.3064_3065insAAGGACG	XP_011523957.1:p.Gly1022GlufsTer7
XM_011525656.2:c.1492_1493insAAGGACG	XP_011523958.1:p.Gly498GlufsTer7
NM_005559.4:c.3064_3065insAAGGACG MANE Select	NP_005550.2:p.Gly1022GlufsTer7