Canonical Allele Identifier: CA626688456

Gene: DLX4

Linked Data

• dbSNP Id: rs1299776461
• gnomAD v2: 17-48051204-TACCCAAGGC-T
• gnomAD v3: 17-49973840-TACCCAAGGC-T
• gnomAD v4: 17-49973840-TACCCAAGGC-T
• MyVariant Identifiers: chr17:g.48051205_48051213del (hg19) ; chr17:g.49973841_49973849del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49973842_49973850del , CM000679.2:g.49973842_49973850del	GRCh38
NC_000017.10:g.48051206_48051214del , CM000679.1:g.48051206_48051214del	GRCh37
NC_000017.9:g.45406205_45406213del	NCBI36
NG_030592.1:g.9645_9653del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1503_1511del
ENST00000240306.5:c.622_630del MANE Select	ENSP00000240306.3:p.Pro208_Ala210del
ENST00000240306.4:c.622_630del	ENSP00000240306.3:p.Pro208_Ala210del
ENST00000411890.3:c.406_414del	ENSP00000410622.2:p.Pro136_Ala138del
ENST00000611342.1:c.*492_*500del	ENSP00000480366.1:n.*492_*500del
NM_001934.3:c.406_414del	NP_001925.2:p.Pro136_Ala138del
NM_138281.2:c.622_630del	NP_612138.1:p.Pro208_Ala210del
XM_011524459.1:c.406_414del	XP_011522761.1:p.Pro136_Ala138del
XM_017024291.1:c.406_414del	XP_016879780.1:p.Pro136_Ala138del
NM_138281.3:c.622_630del MANE Select	NP_612138.1:p.Pro208_Ala210del
NM_001934.4:c.406_414del	NP_001925.2:p.Pro136_Ala138del