Canonical Allele Identifier: CA170650
Gene: LAMA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.7016664_7016665del , CM000680.2:g.7016664_7016665del GRCh38
NC_000018.9:g.7016663_7016664del , CM000680.1:g.7016663_7016664del GRCh37
NC_000018.8:g.7006663_7006664del NCBI36
NG_034251.1:g.106151_106152del

Transcript Alleles

HGVS Amino-acid Change
ENST00000389658.4:c.2816_2817del MANE Select ENSP00000374309.3:p.Tyr939LeufsTer27
ENST00000389658.3:c.2816_2817del ENSP00000374309.3:p.Tyr939LeufsTer27
ENST00000579014.5:n.3831_3832del
NM_005559.3:c.2816_2817del NP_005550.2:p.Tyr939LeufsTer27
XM_011525655.1:c.2816_2817del XP_011523957.1:p.Tyr939LeufsTer27
XM_011525656.1:c.1244_1245del XP_011523958.1:p.Tyr415LeufsTer27
XM_011525657.1:c.2816_2817del XP_011523959.1:p.Tyr939LeufsTer27
XM_011525655.2:c.2816_2817del XP_011523957.1:p.Tyr939LeufsTer27
XM_011525656.2:c.1244_1245del XP_011523958.1:p.Tyr415LeufsTer27
NM_005559.4:c.2816_2817del MANE Select NP_005550.2:p.Tyr939LeufsTer27
Search 100 bp 5'
Search 100 bp 3'