Canonical Allele Identifier: CA915946009

Gene: DNAAF4 DNAAF4-CCPG1

Linked Data

• ClinVar Variation Id: 804473
• ClinVar RCV Id: RCV000991454
• dbSNP Id: rs1595952313

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.55491140_55491146del , CM000677.2:g.55491140_55491146del	GRCh38
NC_000015.9:g.55783338_55783344del , CM000677.1:g.55783338_55783344del	GRCh37
NC_000015.8:g.53570630_53570636del	NCBI36
NG_021213.1:g.22091_22097del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321149.7:c.384_390del (DNAAF4) MANE Select	ENSP00000323275.3:p.Tyr128Ter
ENST00000348518.4:c.384_390del (DNAAF4)	ENSP00000299561.5:p.Tyr128Ter
ENST00000448430.6:c.384_390del (DNAAF4)	ENSP00000403412.2:p.Tyr128Ter
ENST00000457155.6:c.384_390del (DNAAF4)	ENSP00000402640.2:p.Tyr128Ter
ENST00000519017.1:n.399_405del (DNAAF4)
ENST00000522437.1:c.*194_*200del (DNAAF4)	ENSP00000429219.1:n.*194_*200del
ENST00000524160.5:c.384_390del (DNAAF4)	ENSP00000428097.1:p.Tyr128Ter
NM_001033559.2:c.384_390del (DNAAF4)	NP_001028731.1:p.Tyr128Ter
NM_001033560.1:c.384_390del (DNAAF4)	NP_001028732.1:p.Tyr128Ter
NM_130810.3:c.384_390del (DNAAF4)	NP_570722.2:p.Tyr128Ter
NR_037923.1:n.639_645del (DNAAF4-CCPG1)
NM_130810.4:c.384_390del (DNAAF4) MANE Select	NP_570722.2:p.Tyr128Ter
NM_001033559.3:c.384_390del (DNAAF4)	NP_001028731.1:p.Tyr128Ter
NM_001033560.2:c.384_390del (DNAAF4)	NP_001028732.1:p.Tyr128Ter