Canonical Allele Identifier: CA2639832166

Gene: LLGL2

Linked Data

• gnomAD v4: 17-75568715-GCCCCAGCCCCACCGCAAGCCAAACTCTCCCATGGACTTCTTGGTCTCTTTTTCTAGGAGTGGCCAATTGATGGTGGCACCAGCCTGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75568729_75568815del , CM000679.2:g.75568729_75568815del	GRCh38
NC_000017.10:g.73564810_73564896del , CM000679.1:g.73564810_73564896del	GRCh37
NC_000017.9:g.71076405_71076491del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392550.8:c.1254+36_1298del
ENST00000167462.9:c.1254+36_1298del
ENST00000392550.7:c.1254+36_1298del
ENST00000545227.6:n.1431+36_1475del
ENST00000577200.5:c.1254+36_1298del
ENST00000577500.5:n.774+36_818del
ENST00000578638.5:c.245+36_289del
NM_001031803.1:c.1254+36_1298del
NM_004524.2:c.1254+36_1298del
XM_006721897.2:c.1254+36_1298del
XM_011524801.1:c.1254+36_1298del
XM_011524802.1:c.1254+36_1298del
XM_011524803.1:c.1254+36_1298del
XM_011524804.1:c.1254+36_1298del
XM_011524805.1:c.1254+36_1298del
XM_011524806.1:c.1254+36_1298del
XM_011524807.1:c.1056+36_1100del
XM_017024625.1:c.1254+36_1298del
XM_017024626.1:c.1254+36_1298del
XM_017024627.1:c.1254+36_1298del
XM_017024628.1:c.1254+36_1298del
XM_017024629.1:c.1254+36_1298del
XM_017024630.1:c.1254+36_1298del
XM_017024631.1:c.1254+36_1298del
XR_001752508.1:n.1379+36_1423del
XR_002957999.1:n.1379+36_1423del
XR_002958000.1:n.1446+36_1490del
XR_002958001.1:n.1489+36_1533del
XR_002958002.1:n.1418+36_1462del
XR_002958003.1:n.1379+36_1423del
XR_002958004.1:n.1497+36_1541del
XR_002958005.1:n.1515+36_1559del
NM_001031803.2:c.1254+36_1298del
NM_004524.3:c.1254+36_1298del