Canonical Allele Identifier: CA891863077
Gene: DLX4 HGNC NCBI

Linked Data

ClinVar Variation Id: 591644
ClinVar RCV Id: RCV000722825
dbSNP Id: rs1567908151

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.49973831_49973833delinsACA , CM000679.2:g.49973831_49973833delinsACA GRCh38
NC_000017.10:g.48051195_48051197delinsACA , CM000679.1:g.48051195_48051197delinsACA GRCh37
NC_000017.9:g.45406194_45406196delinsACA NCBI36
NG_030592.1:g.9634_9636delinsACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000706528.1:n.1492_1494delinsACA
ENST00000240306.5:c.611_613delinsACA MANE Select ENSP00000240306.3:p.Leu204_Trp205delinsHisArg
ENST00000240306.4:c.611_613delinsACA ENSP00000240306.3:p.Leu204_Trp205delinsHisArg
ENST00000411890.3:c.395_397delinsACA ENSP00000410622.2:p.Leu132_Trp133delinsHisArg
ENST00000611342.1:c.*481_*483delinsACA ENSP00000480366.1:n.*481_*483delinsACA
NM_001934.3:c.395_397delinsACA NP_001925.2:p.Leu132_Trp133delinsHisArg
NM_138281.2:c.611_613delinsACA NP_612138.1:p.Leu204_Trp205delinsHisArg
XM_011524459.1:c.395_397delinsACA XP_011522761.1:p.Leu132_Trp133delinsHisArg
XM_017024291.1:c.395_397delinsACA XP_016879780.1:p.Leu132_Trp133delinsHisArg
NM_138281.3:c.611_613delinsACA MANE Select NP_612138.1:p.Leu204_Trp205delinsHisArg
NM_001934.4:c.395_397delinsACA NP_001925.2:p.Leu132_Trp133delinsHisArg