Canonical Allele Identifier: CA8238355

Gene: ACSF3

Linked Data

• dbSNP Id: rs748830812
• ExAC: 16:89220509 CCCCGTA / C
• gnomAD v2: 16-89220509-CCCCGTA-C
• gnomAD v3: 16-89154101-CCCCGTA-C
• gnomAD v4: 16-89154101-CCCCGTA-C
• MyVariant Identifiers: chr16:g.89220510_89220515del (hg19) ; chr16:g.89154102_89154107del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89154103_89154108del , CM000678.2:g.89154103_89154108del	GRCh38
NC_000016.9:g.89220511_89220516del , CM000678.1:g.89220511_89220516del	GRCh37
NC_000016.8:g.87748012_87748017del	NCBI36
NG_031961.1:g.65295_65300del

Transcript Alleles

HGVS	Amino-acid change
ENST00000317447.9:c.1627_1632del	ENSP00000320646.4:p.Pro543_Tyr544del
ENST00000614302.5:c.1627_1632del MANE Select	ENSP00000479130.1:p.Pro543_Tyr544del
ENST00000649953.1:c.1837_1842del	ENSP00000497456.1:p.Pro613_Tyr614del
ENST00000317447.8:c.1627_1632del	ENSP00000320646.4:p.Pro543_Tyr544del
ENST00000378345.8:c.832_837del	ENSP00000367596.4:p.Pro278_Tyr279del
ENST00000393145.5:n.6537_6542del
ENST00000406948.7:c.1627_1632del	ENSP00000384627.3:p.Pro543_Tyr544del
ENST00000537116.5:n.753_758del
ENST00000537155.1:n.367_372del
ENST00000542688.5:c.*371_*376del	ENSP00000446281.1:n.*371_*376del
ENST00000614302.4:c.1627_1632del	ENSP00000479130.1:p.Pro543_Tyr544del
NM_001127214.3:c.1627_1632del	NP_001120686.1:p.Pro543_Tyr544del
NM_001243279.2:c.1627_1632del	NP_001230208.1:p.Pro543_Tyr544del
NM_001284316.1:c.832_837del	NP_001271245.1:p.Pro278_Tyr279del
NM_174917.4:c.1627_1632del	NP_777577.2:p.Pro543_Tyr544del
NR_045667.2:n.753_758del
NR_104293.1:n.2061_2066del
XR_933239.1:n.2068_2073del
XR_933240.1:n.2065_2070del
XR_933241.1:n.1822_1827del
NR_147928.1:n.2105_2110del
NR_147929.1:n.1859_1864del
XM_017023020.2:c.-3478_-3473del	XP_016878509.1:n.-3478_-3473del
XM_024450187.1:c.832_837del	XP_024305955.1:p.Pro278_Tyr279del
XR_001751864.2:n.1874_1879del
XR_933240.3:n.2064_2069del
NM_001127214.4:c.1627_1632del	NP_001120686.1:p.Pro543_Tyr544del
NM_001243279.3:c.1627_1632del MANE Select	NP_001230208.1:p.Pro543_Tyr544del
NM_001284316.2:c.832_837del	NP_001271245.1:p.Pro278_Tyr279del
NM_174917.5:c.1627_1632del	NP_777577.2:p.Pro543_Tyr544del
NR_104293.2:n.2018_2023del
NR_147928.2:n.2062_2067del
NR_147929.2:n.1816_1821del