Canonical Allele Identifier: CA291491139
Gene: DLX4 HGNC NCBI

Linked Data

dbSNP Id: rs201251660
gnomAD v2: 17-48051734-AT-A
gnomAD v3: 17-49974370-AT-A
gnomAD v4: 17-49974370-AT-A
MyVariant Identifiers: chr17:g.48051735del (hg19) chr17:g.49974371del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.49974379del , CM000679.2:g.49974379del GRCh38
NC_000017.10:g.48051743del , CM000679.1:g.48051743del GRCh37
NC_000017.9:g.45406742del NCBI36
NG_030592.1:g.10182del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706528.1:n.2040del
ENST00000240306.5:c.*436del MANE Select ENSP00000240306.3:n.*436del
ENST00000240306.4:c.*436del ENSP00000240306.3:n.*436del
ENST00000411890.3:c.*436del ENSP00000410622.2:n.*436del
ENST00000611342.1:c.*1029del ENSP00000480366.1:n.*1029del
NM_001934.3:c.*436del NP_001925.2:n.*436del
NM_138281.2:c.*436del NP_612138.1:n.*436del
XM_011524459.1:c.*436del XP_011522761.1:n.*436del
XM_017024291.1:c.*436del XP_016879780.1:n.*436del
NM_138281.3:c.*436del MANE Select NP_612138.1:n.*436del
NM_001934.4:c.*436del NP_001925.2:n.*436del
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