Canonical Allele Identifier: CA2621784732

Gene: DHX37

Linked Data

• gnomAD v4: 12-124968950-G-GACCTGGCCAGGGCCTCACCTGCGGGCAGCATCCGGTGGATCTTGCAGAC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.124968950_124968951insACCTGGCCAGGGCCTCACCTGCGGGCAGCATCCGGTGGATCTTGCAGAC , CM000674.2:g.124968950_124968951insACCTGGCCAGGGCCTCACCTGCGGGCAGCATCCGGTGGATCTTGCAGAC	GRCh38
NC_000012.11:g.125453496_125453497insACCTGGCCAGGGCCTCACCTGCGGGCAGCATCCGGTGGATCTTGCAGAC , CM000674.1:g.125453496_125453497insACCTGGCCAGGGCCTCACCTGCGGGCAGCATCCGGTGGATCTTGCAGAC	GRCh37
NC_000012.10:g.124019449_124019450insACCTGGCCAGGGCCTCACCTGCGGGCAGCATCCGGTGGATCTTGCAGAC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308736.7:c.1209_1210insGTCTGCAAGATCCACCGGATGCTGCCCGCAGGTGAGGCCCTGGCCAGGT MANE Select	ENSP00000311135.2:p.Leu404ValfsTer?
ENST00000544745.2:c.680_681insGTCTGCAAGATCCACCGGATGCTGCCCGCAGGTGAGGCCCTGGCCAGGT
ENST00000679875.1:n.1281_1282insGTCTGCAAGATCCACCGGATGCTGCCCGCAGGTGAGGCCCTGGCCAGGT
ENST00000308736.6:c.1209_1210insGTCTGCAAGATCCACCGGATGCTGCCCGCAGGTGAGGCCCTGGCCAGGT	ENSP00000311135.2:p.Leu404ValfsTer?
ENST00000539298.1:n.1309_1310insGTCTGCAAGATCCACCGGATGCTGCCCGCAGGTGAGGCCCTGGCCAGGT
ENST00000544745.1:c.570_571insGTCTGCAAGATCCACCGGATGCTGCCCGCAGGTGAGGCCCTGGCCAGGT	ENSP00000439009.1:p.Leu191ValfsTer?
NM_032656.3:c.1209_1210insGTCTGCAAGATCCACCGGATGCTGCCCGCAGGTGAGGCCCTGGCCAGGT	NP_116045.2:p.Leu404ValfsTer?
XM_005253590.2:c.1209_1210insGTCTGCAAGATCCACCGGATGCTGCCCGCAGGTGAGGCCCTGGCCAGGT	XP_005253647.1:p.Leu404ValfsTer?
XM_011538597.1:c.1209_1210insGTCTGCAAGATCCACCGGATGCTGCCCGCAGGTGAGGCCCTGGCCAGGT	XP_011536899.1:p.Leu404ValfsTer?
XM_011538598.1:c.1209_1210insGTCTGCAAGATCCACCGGATGCTGCCCGCAGGTGAGGCCCTGGCCAGGT	XP_011536900.1:p.Leu404ValfsTer?
XM_011538599.1:c.1209_1210insGTCTGCAAGATCCACCGGATGCTGCCCGCAGGTGAGGCCCTGGCCAGGT	XP_011536901.1:p.Leu404ValfsTer?
XM_011538600.1:c.1209_1210insGTCTGCAAGATCCACCGGATGCTGCCCGCAGGTGAGGCCCTGGCCAGGT	XP_011536902.1:p.Leu404ValfsTer?
XM_005253590.3:c.1209_1210insGTCTGCAAGATCCACCGGATGCTGCCCGCAGGTGAGGCCCTGGCCAGGT	XP_005253647.1:p.Leu404ValfsTer?
XM_011538598.2:c.1209_1210insGTCTGCAAGATCCACCGGATGCTGCCCGCAGGTGAGGCCCTGGCCAGGT	XP_011536900.1:p.Leu404ValfsTer?
XM_011538600.2:c.1209_1210insGTCTGCAAGATCCACCGGATGCTGCCCGCAGGTGAGGCCCTGGCCAGGT	XP_011536902.1:p.Leu404ValfsTer?
XR_001748819.1:n.1312_1313insGTCTGCAAGATCCACCGGATGCTGCCCGCAGGTGAGGCCCTGGCCAGGT
XR_001748820.1:n.1312_1313insGTCTGCAAGATCCACCGGATGCTGCCCGCAGGTGAGGCCCTGGCCAGGT
NM_032656.4:c.1209_1210insGTCTGCAAGATCCACCGGATGCTGCCCGCAGGTGAGGCCCTGGCCAGGT MANE Select	NP_116045.2:p.Leu404ValfsTer?