Canonical Allele Identifier: CA980393876

Gene: ACSF3

Linked Data

• dbSNP Id: rs1912653340
• gnomAD v3: 16-89145147-CCCCCTTTCCTCAGAGGACACCGTGGTGTTTAAGGACGGCCAGTTAACCAGAG-C
• gnomAD v4: 16-89145147-CCCCCTTTCCTCAGAGGACACCGTGGTGTTTAAGGACGGCCAGTTAACCAGAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89145155_89145206del , CM000678.2:g.89145155_89145206del	GRCh38
NC_000016.9:g.89211563_89211614del , CM000678.1:g.89211563_89211614del	GRCh37
NC_000016.8:g.87739064_87739115del	NCBI36
NG_031961.1:g.56347_56398del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1367-112_1367-61del	ENSP00000320646.4:n.1367-112_1367-61del
ENST00000614302.5:c.1367-112_1367-61del MANE Select	ENSP00000479130.1:n.1367-112_1367-61del
ENST00000649953.1:c.1577-112_1577-61del	ENSP00000497456.1:n.1577-112_1577-61del
ENST00000317447.8:c.1367-112_1367-61del	ENSP00000320646.4:n.1367-112_1367-61del
ENST00000378345.8:c.572-112_572-61del	ENSP00000367596.4:n.572-112_572-61del
ENST00000406948.7:c.1367-112_1367-61del	ENSP00000384627.3:n.1367-112_1367-61del
ENST00000537116.5:n.493-112_493-61del
ENST00000542688.5:c.*111-112_*111-61del	ENSP00000446281.1:n.*111-112_*111-61del
ENST00000544543.5:c.572-112_572-61del	ENSP00000442781.1:n.572-112_572-61del
ENST00000562204.1:n.287-59_287-8del
ENST00000614302.4:c.1367-112_1367-61del	ENSP00000479130.1:n.1367-112_1367-61del
NM_001127214.3:c.1367-112_1367-61del	NP_001120686.1:n.1367-112_1367-61del
NM_001243279.2:c.1367-112_1367-61del	NP_001230208.1:n.1367-112_1367-61del
NM_001284316.1:c.572-112_572-61del	NP_001271245.1:n.572-112_572-61del
NM_174917.4:c.1367-112_1367-61del	NP_777577.2:n.1367-112_1367-61del
NR_045667.2:n.493-112_493-61del
NR_104293.1:n.1748-59_1748-8del
XM_005256293.1:c.1367-112_1367-61del	XP_005256350.1:n.1367-112_1367-61del
XM_011522942.1:c.1367-112_1367-61del	XP_011521244.1:n.1367-112_1367-61del
XM_011522943.1:c.1367-112_1367-61del	XP_011521245.1:n.1367-112_1367-61del
XR_933239.1:n.1808-112_1808-61del
XR_933240.1:n.1805-112_1805-61del
XR_933241.1:n.1562-112_1562-61del
NR_147928.1:n.1845-112_1845-61del
NR_147929.1:n.1599-112_1599-61del
XM_005256293.2:c.1367-112_1367-61del	XP_005256350.1:n.1367-112_1367-61del
XM_017023018.1:c.1367-112_1367-61del	XP_016878507.1:n.1367-112_1367-61del
XM_017023019.1:c.1367-112_1367-61del	XP_016878508.1:n.1367-112_1367-61del
XM_017023020.2:c.-3791-59_-3791-8del	XP_016878509.1:n.-3791-59_-3791-8del
XM_017023021.1:c.*5212_*5263del	XP_016878510.1:n.*5212_*5263del
XM_017023022.1:c.500-112_500-61del	XP_016878511.1:n.500-112_500-61del
XM_024450186.1:c.572-112_572-61del	XP_024305954.1:n.572-112_572-61del
XM_024450187.1:c.572-112_572-61del	XP_024305955.1:n.572-112_572-61del
XR_001751864.2:n.1561-59_1561-8del
XR_001751865.1:n.1561-112_1561-61del
XR_933238.2:n.5879_5930del
XR_933240.3:n.1804-112_1804-61del
NM_001127214.4:c.1367-112_1367-61del	NP_001120686.1:n.1367-112_1367-61del
NM_001243279.3:c.1367-112_1367-61del MANE Select	NP_001230208.1:n.1367-112_1367-61del
NM_001284316.2:c.572-112_572-61del	NP_001271245.1:n.572-112_572-61del
NM_174917.5:c.1367-112_1367-61del	NP_777577.2:n.1367-112_1367-61del
NR_104293.2:n.1705-59_1705-8del
NR_147928.2:n.1802-112_1802-61del
NR_147929.2:n.1556-112_1556-61del