Canonical Allele Identifier: CA2638666135

Gene: DLX4

Linked Data

• gnomAD v4: 17-49973808-C-CTTTTTTTAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49973809_49973810insTTTTTTAAT , CM000679.2:g.49973809_49973810insTTTTTTAAT	GRCh38
NC_000017.10:g.48051173_48051174insTTTTTTAAT , CM000679.1:g.48051173_48051174insTTTTTTAAT	GRCh37
NC_000017.9:g.45406172_45406173insTTTTTTAAT	NCBI36
NG_030592.1:g.9612_9613insTTTTTTAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1470_1471insTTTTTTAAT
ENST00000240306.5:c.589_590insTTTTTTAAT MANE Select	ENSP00000240306.3:p.Cys197PhefsTer3
ENST00000240306.4:c.589_590insTTTTTTAAT	ENSP00000240306.3:p.Cys197PhefsTer3
ENST00000411890.3:c.373_374insTTTTTTAAT	ENSP00000410622.2:p.Cys125PhefsTer3
ENST00000611342.1:c.*459_*460insTTTTTTAAT	ENSP00000480366.1:n.*459_*460insTTTTTTAAT
NM_001934.3:c.373_374insTTTTTTAAT	NP_001925.2:p.Cys125PhefsTer3
NM_138281.2:c.589_590insTTTTTTAAT	NP_612138.1:p.Cys197PhefsTer3
XM_011524459.1:c.373_374insTTTTTTAAT	XP_011522761.1:p.Cys125PhefsTer3
XM_017024291.1:c.373_374insTTTTTTAAT	XP_016879780.1:p.Cys125PhefsTer3
NM_138281.3:c.589_590insTTTTTTAAT MANE Select	NP_612138.1:p.Cys197PhefsTer3
NM_001934.4:c.373_374insTTTTTTAAT	NP_001925.2:p.Cys125PhefsTer3