Canonical Allele Identifier: CA8202378

Gene: DNAAF1

Linked Data

• dbSNP Id: rs776767923
• ExAC: 16:84182607 TA / T
• gnomAD v2: 16-84182607-TA-T
• gnomAD v4: 16-84149002-TA-T
• MyVariant Identifiers: chr16:g.84182608del (hg19) ; chr16:g.84149003del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.84149003del , CM000678.2:g.84149003del	GRCh38
NC_000016.9:g.84182608del , CM000678.1:g.84182608del	GRCh37
NC_000016.8:g.82740109del	NCBI36
NG_021174.1:g.8744del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378553.10:c.125-4del MANE Select	ENSP00000367815.5:n.125-4del
ENST00000378553.9:c.125-4del	ENSP00000367815.5:n.125-4del
ENST00000563093.5:c.125-4del	ENSP00000457373.1:n.125-4del
ENST00000567918.5:c.125-4del	ENSP00000455154.1:n.125-4del
ENST00000570298.5:n.279-4del
NM_178452.4:c.125-4del	NP_848547.4:n.125-4del
XM_006721129.1:c.125-4del	XP_006721192.1:n.125-4del
XM_011522850.1:c.125-4del	XP_011521152.1:n.125-4del
XM_011522851.1:c.125-4del	XP_011521153.1:n.125-4del
XM_011522852.1:c.125-4del	XP_011521154.1:n.125-4del
XM_011522853.1:c.125-4del	XP_011521155.1:n.125-4del
XM_011522854.1:c.125-4del	XP_011521156.1:n.125-4del
XM_011522855.1:c.125-4del	XP_011521157.1:n.125-4del
XM_011522856.1:c.-137-4del	XP_011521158.1:n.-137-4del
XM_011522857.1:c.125-4del	XP_011521159.1:n.125-4del
XM_011522858.1:c.125-4del	XP_011521160.1:n.125-4del
NM_178452.5:c.125-4del	NP_848547.4:n.125-4del
XM_006721129.3:c.125-4del	XP_006721192.1:n.125-4del
XM_011522853.3:c.125-4del	XP_011521155.1:n.125-4del
XM_011522854.3:c.125-4del	XP_011521156.1:n.125-4del
XM_011522855.3:c.125-4del	XP_011521157.1:n.125-4del
XM_011522857.3:c.125-4del	XP_011521159.1:n.125-4del
XM_011522858.3:c.125-4del	XP_011521160.1:n.125-4del
XM_017022918.2:c.125-4del	XP_016878407.1:n.125-4del
XM_017022919.1:c.-137-4del	XP_016878408.1:n.-137-4del
XR_001751829.2:n.299-4del
XR_001751830.2:n.299-4del
XR_001751831.2:n.299-4del
XR_001751832.1:n.608-4del
NM_178452.6:c.125-4del MANE Select	NP_848547.4:n.125-4del