Canonical Allele Identifier: CA2638666137

Gene: DLX4

Linked Data

• gnomAD v4: 17-49973814-C-CGGCGA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49973814_49973815insGGCGA , CM000679.2:g.49973814_49973815insGGCGA	GRCh38
NC_000017.10:g.48051178_48051179insGGCGA , CM000679.1:g.48051178_48051179insGGCGA	GRCh37
NC_000017.9:g.45406177_45406178insGGCGA	NCBI36
NG_030592.1:g.9617_9618insGGCGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1475_1476insGGCGA
ENST00000240306.5:c.594_595insGGCGA MANE Select	ENSP00000240306.3:p.Pro199GlyfsTer?
ENST00000240306.4:c.594_595insGGCGA	ENSP00000240306.3:p.Pro199GlyfsTer?
ENST00000411890.3:c.378_379insGGCGA	ENSP00000410622.2:p.Pro127GlyfsTer?
ENST00000611342.1:c.*464_*465insGGCGA	ENSP00000480366.1:n.*464_*465insGGCGA
NM_001934.3:c.378_379insGGCGA	NP_001925.2:p.Pro127GlyfsTer?
NM_138281.2:c.594_595insGGCGA	NP_612138.1:p.Pro199GlyfsTer?
XM_011524459.1:c.378_379insGGCGA	XP_011522761.1:p.Pro127GlyfsTer?
XM_017024291.1:c.378_379insGGCGA	XP_016879780.1:p.Pro127GlyfsTer?
NM_138281.3:c.594_595insGGCGA MANE Select	NP_612138.1:p.Pro199GlyfsTer?
NM_001934.4:c.378_379insGGCGA	NP_001925.2:p.Pro127GlyfsTer?