Canonical Allele Identifier: CA8114895

Gene: ACD

Linked Data

• ClinVar Variation Id: 542415
• ClinVar RCV Id: RCV000709901 ; RCV000652834
• dbSNP Id: rs753666055
• ExAC: 16:67694244 AC / A
• gnomAD v2: 16-67694244-AC-A
• gnomAD v3: 16-67660341-AC-A
• gnomAD v4: 16-67660341-AC-A
• MyVariant Identifiers: chr16:g.67694245del (hg19) ; chr16:g.67660342del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67660342del , CM000678.2:g.67660342del	GRCh38
NC_000016.9:g.67694245del , CM000678.1:g.67694245del	GRCh37
NC_000016.8:g.66251746del	NCBI36
NG_042874.1:g.5474del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000602382.6:c.-122del	ENSP00000473313.2:n.-122del
ENST00000602860.6:n.422del
ENST00000695641.1:n.419del
ENST00000695649.1:n.419del
ENST00000219251.13:c.-122del	ENSP00000219251.8:n.-122del
ENST00000219251.12:c.137del	ENSP00000219251.7:p.Arg46LeufsTer?
ENST00000393919.8:c.137del	ENSP00000377496.4:p.Arg46LeufsTer?
ENST00000620338.4:c.137del	ENSP00000483117.1:p.Arg46LeufsTer?
NM_001082486.1:c.137del	NP_001075955.1:p.Arg46LeufsTer?
NM_001082487.1:c.137del	NP_001075956.1:p.Arg46LeufsTer?
NM_022914.2:c.137del	NP_075065.2:p.Arg46LeufsTer?
XM_005256115.2:c.137del	XP_005256172.1:p.Arg46LeufsTer?
XR_429727.2:n.474del
XR_429728.2:n.474del
XM_005256115.4:c.137del	XP_005256172.1:p.Arg46LeufsTer?
XR_429727.3:n.487del
XR_429728.3:n.491del