Canonical Allele Identifier: CA2697552293

Gene: FUCA1

Linked Data

• ClinVar Variation Id: 2711635
• ClinVar RCV Id: RCV003496416

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848677_23848678delinsAA , CM000663.2:g.23848677_23848678delinsAA	GRCh38
NC_000001.10:g.24175167_24175168delinsAA , CM000663.1:g.24175167_24175168delinsAA	GRCh37
NC_000001.9:g.24047754_24047755delinsAA	NCBI36
NG_013346.1:g.24692_24693delinsTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.1131_1132delinsTT MANE Select	ENSP00000363603.3:p.Val378Ter
ENST00000374479.3:c.1131_1132delinsTT	ENSP00000363603.3:p.Val378Ter
NM_000147.4:c.1131_1132delinsTT	NP_000138.2:p.Val378Ter
XM_005245821.1:c.756_757delinsTT	XP_005245878.1:p.Val253Ter
XM_011541167.1:c.498_499delinsTT	XP_011539469.1:p.Val167Ter
XM_005245821.3:c.756_757delinsTT	XP_005245878.1:p.Val253Ter
XM_011541167.3:c.498_499delinsTT	XP_011539469.1:p.Val167Ter
XM_017000905.2:c.828_829delinsTT	XP_016856394.1:p.Val277Ter
NM_000147.5:c.1131_1132delinsTT MANE Select	NP_000138.2:p.Val378Ter
NR_174379.1:n.1309_1310delinsTT
NR_174380.1:n.1358_1359delinsTT
NR_174381.1:n.1197_1198delinsTT
NR_174382.1:n.1594_1595delinsTT