Canonical Allele Identifier: CA2656330429

Gene: LARGE1

Linked Data

• gnomAD v4: 22-33304496-AGCATCTGGAGCCTGGAAGAGACAGGGAGGGTGAGCCGCGGGACCTGGGCCATCCATGCATCATCCGCCGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.33304499_33304568del , CM000684.2:g.33304499_33304568del	GRCh38
NC_000022.10:g.33700485_33700554del , CM000684.1:g.33700485_33700554del	GRCh37
NC_000022.9:g.32030485_32030554del	NCBI36
NG_009929.2:g.620863_620932del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354992.7:c.1452-59_1462del
ENST00000397394.8:c.1452-59_1462del
ENST00000402320.6:c.1296-59_1306del
ENST00000413114.6:c.1452-59_1462del
ENST00000608642.6:c.1452-59_1462del
ENST00000609799.6:c.1451+11519_1451+11588del	ENSP00000476415.2:n.1451+11519_1451+11588del
ENST00000610186.6:c.1452-59_1462del
ENST00000674543.1:c.1452-59_1462del
ENST00000674668.1:c.1326-59_1336del
ENST00000674708.1:n.1110-59_1120del
ENST00000674780.1:c.849-59_859del
ENST00000674789.1:c.1452-59_1462del
ENST00000674816.1:n.1260-59_1270del
ENST00000674999.1:c.1248-59_1258del
ENST00000675277.1:c.1248-59_1258del
ENST00000675382.1:c.1288-59_1298del
ENST00000675416.1:c.1452-59_1462del
ENST00000676031.1:c.*34-59_*44del
ENST00000676070.1:c.1452-59_1462del
ENST00000676126.1:c.1451+11519_1451+11588del	ENSP00000501966.1:n.1451+11519_1451+11588del
ENST00000676132.1:c.1452-59_1462del
ENST00000676370.1:c.1452-59_1462del
ENST00000354992.6:c.1452-59_1462del
ENST00000397394.6:c.1452-59_1462del
ENST00000402320.5:c.1296-59_1306del
ENST00000608642.5:c.483-59_493del
ENST00000609799.5:c.482+11519_482+11588del	ENSP00000476415.1:n.482+11519_482+11588del
ENST00000610186.5:c.483-59_493del
NM_004737.4:c.1452-59_1462del
NM_133642.3:c.1452-59_1462del
XM_005261831.2:c.1452-59_1462del
XM_005261832.2:c.1452-59_1462del
XM_011530510.1:c.1452-59_1462del
XM_011530511.1:c.1451+11519_1451+11588del	XP_011528813.1:n.1451+11519_1451+11588del
XM_011530512.1:c.849-59_859del
XM_011530513.1:c.354-59_364del
NM_001362949.1:c.1452-59_1462del
NM_001362951.1:c.1452-59_1462del
NM_001362953.1:c.1452-59_1462del
NM_004737.6:c.1452-59_1462del
NM_133642.4:c.1452-59_1462del
XM_005261831.3:c.1452-59_1462del
XM_005261832.3:c.1452-59_1462del
XM_011530512.2:c.849-59_859del
XM_011530513.2:c.354-59_364del
XM_024452302.1:c.1452-59_1462del
XR_002958722.1:n.1499-59_1509del
NM_001362949.2:c.1452-59_1462del
NM_001362951.2:c.1452-59_1462del
NM_001362953.2:c.1452-59_1462del
NM_001378624.1:c.1452-59_1462del
NM_001378625.1:c.1452-59_1462del
NM_001378626.1:c.1452-59_1462del
NM_001378627.1:c.1452-59_1462del
NM_001378628.1:c.1452-59_1462del
NM_001378629.1:c.1296-59_1306del
NM_001378630.1:c.849-59_859del
NM_001378631.1:c.693-59_703del
NM_004737.7:c.1452-59_1462del
NM_133642.5:c.1452-59_1462del