Canonical Allele Identifier: CA2638666136

Gene: DLX4

Linked Data

• gnomAD v4: 17-49973812-T-TCCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49973817_49973821dup , CM000679.2:g.49973817_49973821dup	GRCh38
NC_000017.10:g.48051181_48051185dup , CM000679.1:g.48051181_48051185dup	GRCh37
NC_000017.9:g.45406180_45406184dup	NCBI36
NG_030592.1:g.9620_9624dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1478_1482dup
ENST00000240306.5:c.597_601dup MANE Select	ENSP00000240306.3:p.Leu201HisfsTer?
ENST00000240306.4:c.597_601dup	ENSP00000240306.3:p.Leu201HisfsTer?
ENST00000411890.3:c.381_385dup	ENSP00000410622.2:p.Leu129HisfsTer?
ENST00000611342.1:c.*467_*471dup	ENSP00000480366.1:n.*467_*471dup
NM_001934.3:c.381_385dup	NP_001925.2:p.Leu129HisfsTer?
NM_138281.2:c.597_601dup	NP_612138.1:p.Leu201HisfsTer?
XM_011524459.1:c.381_385dup	XP_011522761.1:p.Leu129HisfsTer?
XM_017024291.1:c.381_385dup	XP_016879780.1:p.Leu129HisfsTer?
NM_138281.3:c.597_601dup MANE Select	NP_612138.1:p.Leu201HisfsTer?
NM_001934.4:c.381_385dup	NP_001925.2:p.Leu129HisfsTer?