Canonical Allele Identifier: CA624226809

Gene: ACSF3

Linked Data

• dbSNP Id: rs1178189877
• gnomAD v2: 16-89220441-TTCC-T
• gnomAD v3: 16-89154033-TTCC-T
• gnomAD v4: 16-89154033-TTCC-T
• MyVariant Identifiers: chr16:g.89220442_89220444del (hg19) ; chr16:g.89154034_89154036del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89154038_89154040del , CM000678.2:g.89154038_89154040del	GRCh38
NC_000016.9:g.89220446_89220448del , CM000678.1:g.89220446_89220448del	GRCh37
NC_000016.8:g.87747947_87747949del	NCBI36
NG_031961.1:g.65230_65232del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1614-52_1614-50del	ENSP00000320646.4:n.1614-52_1614-50del
ENST00000614302.5:c.1614-52_1614-50del MANE Select	ENSP00000479130.1:n.1614-52_1614-50del
ENST00000649953.1:c.1824-52_1824-50del	ENSP00000497456.1:n.1824-52_1824-50del
ENST00000317447.8:c.1614-52_1614-50del	ENSP00000320646.4:n.1614-52_1614-50del
ENST00000378345.8:c.819-52_819-50del	ENSP00000367596.4:n.819-52_819-50del
ENST00000393145.5:n.6472_6474del
ENST00000406948.7:c.1614-52_1614-50del	ENSP00000384627.3:n.1614-52_1614-50del
ENST00000537116.5:n.740-52_740-50del
ENST00000537155.1:n.354-52_354-50del
ENST00000542688.5:c.*358-52_*358-50del	ENSP00000446281.1:n.*358-52_*358-50del
ENST00000614302.4:c.1614-52_1614-50del	ENSP00000479130.1:n.1614-52_1614-50del
NM_001127214.3:c.1614-52_1614-50del	NP_001120686.1:n.1614-52_1614-50del
NM_001243279.2:c.1614-52_1614-50del	NP_001230208.1:n.1614-52_1614-50del
NM_001284316.1:c.819-52_819-50del	NP_001271245.1:n.819-52_819-50del
NM_174917.4:c.1614-52_1614-50del	NP_777577.2:n.1614-52_1614-50del
NR_045667.2:n.740-52_740-50del
NR_104293.1:n.2048-52_2048-50del
XR_933239.1:n.2055-52_2055-50del
XR_933240.1:n.2052-52_2052-50del
XR_933241.1:n.1809-52_1809-50del
NR_147928.1:n.2092-52_2092-50del
NR_147929.1:n.1846-52_1846-50del
XM_017023020.2:c.-3491-52_-3491-50del	XP_016878509.1:n.-3491-52_-3491-50del
XM_024450187.1:c.819-52_819-50del	XP_024305955.1:n.819-52_819-50del
XR_001751864.2:n.1861-52_1861-50del
XR_933240.3:n.2051-52_2051-50del
NM_001127214.4:c.1614-52_1614-50del	NP_001120686.1:n.1614-52_1614-50del
NM_001243279.3:c.1614-52_1614-50del MANE Select	NP_001230208.1:n.1614-52_1614-50del
NM_001284316.2:c.819-52_819-50del	NP_001271245.1:n.819-52_819-50del
NM_174917.5:c.1614-52_1614-50del	NP_777577.2:n.1614-52_1614-50del
NR_104293.2:n.2005-52_2005-50del
NR_147928.2:n.2049-52_2049-50del
NR_147929.2:n.1803-52_1803-50del