Canonical Allele Identifier: CA8238389

Gene: ACSF3

Linked Data

• dbSNP Id: rs777100130
• ExAC: 16:89220627 GGGACTGC / G
• gnomAD v2: 16-89220627-GGGACTGC-G
• gnomAD v3: 16-89154219-GGGACTGC-G
• gnomAD v4: 16-89154219-GGGACTGC-G
• MyVariant Identifiers: chr16:g.89220628_89220634del (hg19) ; chr16:g.89154220_89154226del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89154222_89154228del , CM000678.2:g.89154222_89154228del	GRCh38
NC_000016.9:g.89220630_89220636del , CM000678.1:g.89220630_89220636del	GRCh37
NC_000016.8:g.87748131_87748137del	NCBI36
NG_031961.1:g.65414_65420del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.*15_*21del	ENSP00000320646.4:n.*15_*21del
ENST00000614302.5:c.*15_*21del MANE Select	ENSP00000479130.1:n.*15_*21del
ENST00000649953.1:c.*15_*21del	ENSP00000497456.1:n.*15_*21del
ENST00000317447.8:c.*15_*21del	ENSP00000320646.4:n.*15_*21del
ENST00000378345.8:c.*15_*21del	ENSP00000367596.4:n.*15_*21del
ENST00000393145.5:n.6656_6662del
ENST00000406948.7:c.*15_*21del	ENSP00000384627.3:n.*15_*21del
ENST00000537116.5:n.872_878del
ENST00000537155.1:n.486_492del
ENST00000542688.5:c.*490_*496del	ENSP00000446281.1:n.*490_*496del
ENST00000614302.4:c.*15_*21del	ENSP00000479130.1:n.*15_*21del
NM_001127214.3:c.*15_*21del	NP_001120686.1:n.*15_*21del
NM_001243279.2:c.*15_*21del	NP_001230208.1:n.*15_*21del
NM_001284316.1:c.*15_*21del	NP_001271245.1:n.*15_*21del
NM_174917.4:c.*15_*21del	NP_777577.2:n.*15_*21del
NR_045667.2:n.872_878del
NR_104293.1:n.2180_2186del
XR_933239.1:n.2187_2193del
XR_933240.1:n.2184_2190del
XR_933241.1:n.1941_1947del
NR_147928.1:n.2224_2230del
NR_147929.1:n.1978_1984del
XM_017023020.2:c.-3359_-3353del	XP_016878509.1:n.-3359_-3353del
XM_024450187.1:c.*15_*21del	XP_024305955.1:n.*15_*21del
XR_001751864.2:n.1993_1999del
XR_933240.3:n.2183_2189del
NM_001127214.4:c.*15_*21del	NP_001120686.1:n.*15_*21del
NM_001243279.3:c.*15_*21del MANE Select	NP_001230208.1:n.*15_*21del
NM_001284316.2:c.*15_*21del	NP_001271245.1:n.*15_*21del
NM_174917.5:c.*15_*21del	NP_777577.2:n.*15_*21del
NR_104293.2:n.2137_2143del
NR_147928.2:n.2181_2187del
NR_147929.2:n.1935_1941del