Canonical Allele Identifier: CA344811

Gene: DNAAF1

Linked Data

• ClinVar Variation Id: 65498
• ClinVar RCV Id: RCV000055685
• MyVariant Identifiers: chr16:g.84180705_84186080del (hg19) ; chr16:g.84147100_84152475del (hg38)
• PubMed: PMID:19944405 ; PMID:20301301

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.84147100_84152475del , CM000678.2:g.84147100_84152475del	GRCh38
NC_000016.9:g.84180705_84186080del , CM000678.1:g.84180705_84186080del	GRCh37
NC_000016.8:g.82738206_82743581del	NCBI36
NG_021174.1:g.6841_12216del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378553.10:c.124+1536_353-2102del
ENST00000378553.9:c.124+1536_353-2102del
ENST00000563093.5:c.124+1536_353-2102del
ENST00000567918.5:c.124+1536_353-2102del
ENST00000570298.5:n.278+1536_507-2102del
NM_178452.4:c.124+1536_353-2102del
XM_006721129.1:c.124+1536_353-2102del
XM_011522850.1:c.124+1536_353-2102del
XM_011522851.1:c.124+1536_353-2102del
XM_011522852.1:c.124+1536_353-2102del
XM_011522853.1:c.124+1536_353-2102del
XM_011522854.1:c.124+1536_353-2102del
XM_011522855.1:c.124+1536_353-2102del
XM_011522856.1:c.-138+1222_92-2102del
XM_011522857.1:c.124+1536_353-2102del
XM_011522858.1:c.124+1536_353-2102del
NM_178452.5:c.124+1536_353-2102del
XM_006721129.3:c.124+1536_353-2102del
XM_011522853.3:c.124+1536_353-2102del
XM_011522854.3:c.124+1536_353-2102del
XM_011522855.3:c.124+1536_353-2102del
XM_011522857.3:c.124+1536_353-2102del
XM_011522858.3:c.124+1536_353-2102del
XM_017022918.2:c.124+1536_353-2102del
XM_017022919.1:c.-138+1222_92-2102del
XR_001751829.2:n.298+1536_527-2102del
XR_001751830.2:n.298+1536_527-2102del
XR_001751831.2:n.298+1536_527-2102del
XR_001751832.1:n.607+1222_836-2102del
NM_178452.6:c.124+1536_353-2102del