Canonical Allele Identifier: CA2638666138

Gene: DLX4

Linked Data

• gnomAD v4: 17-49973817-ACCCCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49973826_49973830del , CM000679.2:g.49973826_49973830del	GRCh38
NC_000017.10:g.48051190_48051194del , CM000679.1:g.48051190_48051194del	GRCh37
NC_000017.9:g.45406189_45406193del	NCBI36
NG_030592.1:g.9629_9633del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1487_1491del
ENST00000240306.5:c.606_610del MANE Select	ENSP00000240306.3:p.Ser203LeufsTer?
ENST00000240306.4:c.606_610del	ENSP00000240306.3:p.Ser203LeufsTer?
ENST00000411890.3:c.390_394del	ENSP00000410622.2:p.Ser131LeufsTer?
ENST00000611342.1:c.*476_*480del	ENSP00000480366.1:n.*476_*480del
NM_001934.3:c.390_394del	NP_001925.2:p.Ser131LeufsTer?
NM_138281.2:c.606_610del	NP_612138.1:p.Ser203LeufsTer?
XM_011524459.1:c.390_394del	XP_011522761.1:p.Ser131LeufsTer?
XM_017024291.1:c.390_394del	XP_016879780.1:p.Ser131LeufsTer?
NM_138281.3:c.606_610del MANE Select	NP_612138.1:p.Ser203LeufsTer?
NM_001934.4:c.390_394del	NP_001925.2:p.Ser131LeufsTer?