Canonical Allele Identifier: CA295779403
Gene: LAMA1 HGNC NCBI

Linked Data

dbSNP Id: rs77712371
gnomAD v2: 18-7015603-T-A
gnomAD v3: 18-7015604-T-A
gnomAD v4: 18-7015604-T-A
MyVariant Identifiers: chr18:g.7015603T>A (hg19) chr18:g.7015603_7015606delinsAAAA (hg19) chr18:g.7015604T>A (hg38) chr18:g.7015604_7015607delinsAAAA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.7015604T>A , CM000680.2:g.7015604T>A GRCh38
NC_000018.9:g.7015603T>A , CM000680.1:g.7015603T>A GRCh37
NC_000018.8:g.7005603T>A NCBI36
NG_034251.1:g.107211A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389658.4:c.3126+118A>T MANE Select ENSP00000374309.3:n.3126+118A>T
ENST00000389658.3:c.3126+118A>T ENSP00000374309.3:n.3126+118A>T
ENST00000579014.5:n.4141+118A>T
NM_005559.3:c.3126+118A>T NP_005550.2:n.3126+118A>T
XM_011525655.1:c.3126+118A>T XP_011523957.1:n.3126+118A>T
XM_011525656.1:c.1554+118A>T XP_011523958.1:n.1554+118A>T
XM_011525657.1:c.3126+118A>T XP_011523959.1:n.3126+118A>T
XM_011525655.2:c.3126+118A>T XP_011523957.1:n.3126+118A>T
XM_011525656.2:c.1554+118A>T XP_011523958.1:n.1554+118A>T
NM_005559.4:c.3126+118A>T MANE Select NP_005550.2:n.3126+118A>T
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