Canonical Allele Identifier: CA295779369

Gene: LAMA1

Linked Data

• dbSNP Id: rs914060040
• gnomAD v3: 18-7015559-TGTGAGC-T
• gnomAD v4: 18-7015559-TGTGAGC-T
• MyVariant Identifiers: chr18:g.7015559_7015564del (hg19) ; chr18:g.7015560_7015565del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.7015560_7015565del , CM000680.2:g.7015560_7015565del	GRCh38
NC_000018.9:g.7015559_7015564del , CM000680.1:g.7015559_7015564del	GRCh37
NC_000018.8:g.7005559_7005564del	NCBI36
NG_034251.1:g.107250_107255del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389658.4:c.3126+157_3126+162del MANE Select	ENSP00000374309.3:n.3126+157_3126+162del
ENST00000389658.3:c.3126+157_3126+162del	ENSP00000374309.3:n.3126+157_3126+162del
ENST00000579014.5:n.4141+157_4141+162del
NM_005559.3:c.3126+157_3126+162del	NP_005550.2:n.3126+157_3126+162del
XM_011525655.1:c.3126+157_3126+162del	XP_011523957.1:n.3126+157_3126+162del
XM_011525656.1:c.1554+157_1554+162del	XP_011523958.1:n.1554+157_1554+162del
XM_011525657.1:c.3126+157_3126+162del	XP_011523959.1:n.3126+157_3126+162del
XM_011525655.2:c.3126+157_3126+162del	XP_011523957.1:n.3126+157_3126+162del
XM_011525656.2:c.1554+157_1554+162del	XP_011523958.1:n.1554+157_1554+162del
NM_005559.4:c.3126+157_3126+162del MANE Select	NP_005550.2:n.3126+157_3126+162del