Canonical Allele Identifier: CA725671216

Gene: ACSF3

Linked Data

• dbSNP Id: rs1259196305
• gnomAD v4: 16-89154171-CAAG-C
• MyVariant Identifiers: chr16:g.89220580_89220582del (hg19) ; chr16:g.89154172_89154174del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89154175_89154177del , CM000678.2:g.89154175_89154177del	GRCh38
NC_000016.9:g.89220583_89220585del , CM000678.1:g.89220583_89220585del	GRCh37
NC_000016.8:g.87748084_87748086del	NCBI36
NG_031961.1:g.65367_65369del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1699_1701del	ENSP00000320646.4:p.Lys567del
ENST00000614302.5:c.1699_1701del MANE Select	ENSP00000479130.1:p.Lys567del
ENST00000649953.1:c.1909_1911del	ENSP00000497456.1:p.Lys637del
ENST00000317447.8:c.1699_1701del	ENSP00000320646.4:p.Lys567del
ENST00000378345.8:c.904_906del	ENSP00000367596.4:p.Lys302del
ENST00000393145.5:n.6609_6611del
ENST00000406948.7:c.1699_1701del	ENSP00000384627.3:p.Lys567del
ENST00000537116.5:n.825_827del
ENST00000537155.1:n.439_441del
ENST00000542688.5:c.*443_*445del	ENSP00000446281.1:n.*443_*445del
ENST00000614302.4:c.1699_1701del	ENSP00000479130.1:p.Lys567del
NM_001127214.3:c.1699_1701del	NP_001120686.1:p.Lys567del
NM_001243279.2:c.1699_1701del	NP_001230208.1:p.Lys567del
NM_001284316.1:c.904_906del	NP_001271245.1:p.Lys302del
NM_174917.4:c.1699_1701del	NP_777577.2:p.Lys567del
NR_045667.2:n.825_827del
NR_104293.1:n.2133_2135del
XR_933239.1:n.2140_2142del
XR_933240.1:n.2137_2139del
XR_933241.1:n.1894_1896del
NR_147928.1:n.2177_2179del
NR_147929.1:n.1931_1933del
XM_017023020.2:c.-3406_-3404del	XP_016878509.1:n.-3406_-3404del
XM_024450187.1:c.904_906del	XP_024305955.1:p.Lys302del
XR_001751864.2:n.1946_1948del
XR_933240.3:n.2136_2138del
NM_001127214.4:c.1699_1701del	NP_001120686.1:p.Lys567del
NM_001243279.3:c.1699_1701del MANE Select	NP_001230208.1:p.Lys567del
NM_001284316.2:c.904_906del	NP_001271245.1:p.Lys302del
NM_174917.5:c.1699_1701del	NP_777577.2:p.Lys567del
NR_104293.2:n.2090_2092del
NR_147928.2:n.2134_2136del
NR_147929.2:n.1888_1890del