Canonical Allele Identifier: CA295779277

Gene: LAMA1

Linked Data

• dbSNP Id: rs761666688
• gnomAD v2: 18-7015422-CCA-C
• gnomAD v3: 18-7015423-CCA-C
• gnomAD v4: 18-7015423-CCA-C
• MyVariant Identifiers: chr18:g.7015423_7015424del (hg19) ; chr18:g.7015424_7015425del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.7015427_7015428del , CM000680.2:g.7015427_7015428del	GRCh38
NC_000018.9:g.7015426_7015427del , CM000680.1:g.7015426_7015427del	GRCh37
NC_000018.8:g.7005426_7005427del	NCBI36
NG_034251.1:g.107390_107391del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389658.4:c.3126+297_3126+298del MANE Select	ENSP00000374309.3:n.3126+297_3126+298del
ENST00000389658.3:c.3126+297_3126+298del	ENSP00000374309.3:n.3126+297_3126+298del
ENST00000579014.5:n.4141+297_4141+298del
NM_005559.3:c.3126+297_3126+298del	NP_005550.2:n.3126+297_3126+298del
XM_011525655.1:c.3126+297_3126+298del	XP_011523957.1:n.3126+297_3126+298del
XM_011525656.1:c.1554+297_1554+298del	XP_011523958.1:n.1554+297_1554+298del
XM_011525657.1:c.3126+297_3126+298del	XP_011523959.1:n.3126+297_3126+298del
XM_011525655.2:c.3126+297_3126+298del	XP_011523957.1:n.3126+297_3126+298del
XM_011525656.2:c.1554+297_1554+298del	XP_011523958.1:n.1554+297_1554+298del
NM_005559.4:c.3126+297_3126+298del MANE Select	NP_005550.2:n.3126+297_3126+298del