Canonical Allele Identifier: CA2638666139

Gene: DLX4

Linked Data

• gnomAD v4: 17-49973817-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49973821del , CM000679.2:g.49973821del	GRCh38
NC_000017.10:g.48051185del , CM000679.1:g.48051185del	GRCh37
NC_000017.9:g.45406184del	NCBI36
NG_030592.1:g.9624del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1482del
ENST00000240306.5:c.601del MANE Select	ENSP00000240306.3:p.Leu201SerfsTer?
ENST00000240306.4:c.601del	ENSP00000240306.3:p.Leu201SerfsTer?
ENST00000411890.3:c.385del	ENSP00000410622.2:p.Leu129SerfsTer?
ENST00000611342.1:c.*471del	ENSP00000480366.1:n.*471del
NM_001934.3:c.385del	NP_001925.2:p.Leu129SerfsTer?
NM_138281.2:c.601del	NP_612138.1:p.Leu201SerfsTer?
XM_011524459.1:c.385del	XP_011522761.1:p.Leu129SerfsTer?
XM_017024291.1:c.385del	XP_016879780.1:p.Leu129SerfsTer?
NM_138281.3:c.601del MANE Select	NP_612138.1:p.Leu201SerfsTer?
NM_001934.4:c.385del	NP_001925.2:p.Leu129SerfsTer?