Canonical Allele Identifier: CA2656331508

Gene: LARGE1

Linked Data

• gnomAD v4: 22-33384299-TCACCCCTGGGCAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.33384302_33384314del , CM000684.2:g.33384302_33384314del	GRCh38
NC_000022.10:g.33780288_33780300del , CM000684.1:g.33780288_33780300del	GRCh37
NC_000022.9:g.32110288_32110300del	NCBI36
NG_009929.2:g.541117_541129del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354992.7:c.893-8_897del
ENST00000397394.8:c.893-8_897del
ENST00000402320.6:c.893-8_897del
ENST00000413114.6:c.893-8_897del
ENST00000421768.2:c.290-8_294del
ENST00000423375.2:c.893-8_897del
ENST00000430220.7:c.893-8_897del
ENST00000432776.6:c.893-8_897del
ENST00000434071.6:c.893-8_897del
ENST00000608642.6:c.893-8_897del
ENST00000609799.6:c.893-8_897del
ENST00000610186.6:c.893-8_897del
ENST00000674543.1:c.893-8_897del
ENST00000674668.1:c.893-8_897del
ENST00000674708.1:n.551-8_555del
ENST00000674780.1:c.290-8_294del
ENST00000674789.1:c.893-8_897del
ENST00000674816.1:n.701-8_705del
ENST00000674999.1:c.689-8_693del
ENST00000675277.1:c.689-8_693del
ENST00000675382.1:c.893-8_897del
ENST00000675416.1:c.893-8_897del
ENST00000676031.1:c.893-8_897del
ENST00000676070.1:c.893-8_897del
ENST00000676126.1:c.893-8_897del
ENST00000676132.1:c.893-8_897del
ENST00000676370.1:c.893-8_897del
ENST00000354992.6:c.893-8_897del
ENST00000397394.6:c.893-8_897del
ENST00000402320.5:c.893-8_897del
ENST00000421768.1:c.290-8_294del
NM_004737.4:c.893-8_897del
NM_133642.3:c.893-8_897del
XM_005261831.2:c.893-8_897del
XM_005261832.2:c.893-8_897del
XM_011530510.1:c.893-8_897del
XM_011530511.1:c.893-8_897del
XM_011530512.1:c.290-8_294del
XM_011530514.1:c.893-8_897del
NM_001362949.1:c.893-8_897del
NM_001362951.1:c.893-8_897del
NM_001362953.1:c.893-8_897del
NM_004737.6:c.893-8_897del
NM_133642.4:c.893-8_897del
XM_005261831.3:c.893-8_897del
XM_005261832.3:c.893-8_897del
XM_011530512.2:c.290-8_294del
XM_024452302.1:c.893-8_897del
XM_024452303.1:c.893-8_897del
XR_002958722.1:n.940-8_944del
NM_001362949.2:c.893-8_897del
NM_001362951.2:c.893-8_897del
NM_001362953.2:c.893-8_897del
NM_001378624.1:c.893-8_897del
NM_001378625.1:c.893-8_897del
NM_001378626.1:c.893-8_897del
NM_001378627.1:c.893-8_897del
NM_001378628.1:c.893-8_897del
NM_001378629.1:c.893-8_897del
NM_001378630.1:c.290-8_294del
NM_001378631.1:c.290-8_294del
NM_004737.7:c.893-8_897del
NM_133642.5:c.893-8_897del