Canonical Allele Identifier: CA521903410
Gene: FUCA1 HGNC NCBI

Linked Data

dbSNP Id: rs1557506014
gnomAD v2: 1-24175188-C-CATAGATAGCCTCCCCATTGATGCTCAGCCATTTCCCAACAGCAAGAAGCCTTTCTTGGAAGATGGG
gnomAD v3: 1-23848698-C-CATAGATAGCCTCCCCATTGATGCTCAGCCATTTCCCAACAGCAAGAAGCCTTTCTTGGAAGATGGG
gnomAD v4: 1-23848698-C-CATAGATAGCCTCCCCATTGATGCTCAGCCATTTCCCAACAGCAAGAAGCCTTTCTTGGAAGATGGG
MyVariant Identifiers: chr1:g.24175188_24175189insATAGATAGCCTCCCCATTGATGCTCAGCCATTTCCCAACAGCAAGAAGCCTTTCTTGGAAGATGGG (hg19) chr1:g.23848698_23848699insATAGATAGCCTCCCCATTGATGCTCAGCCATTTCCCAACAGCAAGAAGCCTTTCTTGGAAGATGGG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23848700_23848765dup , CM000663.2:g.23848700_23848765dup GRCh38
NC_000001.10:g.24175190_24175255dup , CM000663.1:g.24175190_24175255dup GRCh37
NC_000001.9:g.24047777_24047842dup NCBI36
NG_013346.1:g.24606_24671dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.1045_1110dup MANE Select ENSP00000363603.3:p.Tyr370_Ala371insProIlePheGlnGluArgLeuLeuA...
ENST00000374479.3:c.1045_1110dup ENSP00000363603.3:p.Tyr370_Ala371insProIlePheGlnGluArgLeuLeuA...
NM_000147.4:c.1045_1110dup NP_000138.2:p.Tyr370_Ala371insProIlePheGlnGluArgLeuLeuAlaValG...
XM_005245821.1:c.670_735dup XP_005245878.1:p.Tyr245_Ala246insProIlePheGlnGluArgLeuLeuAlaV...
XM_011541167.1:c.412_477dup XP_011539469.1:p.Tyr159_Ala160insProIlePheGlnGluArgLeuLeuAlaV...
XM_005245821.3:c.670_735dup XP_005245878.1:p.Tyr245_Ala246insProIlePheGlnGluArgLeuLeuAlaV...
XM_011541167.3:c.412_477dup XP_011539469.1:p.Tyr159_Ala160insProIlePheGlnGluArgLeuLeuAlaV...
XM_017000905.2:c.742_807dup XP_016856394.1:p.Tyr269_Ala270insProIlePheGlnGluArgLeuLeuAlaV...
NM_000147.5:c.1045_1110dup MANE Select NP_000138.2:p.Tyr370_Ala371insProIlePheGlnGluArgLeuLeuAlaValG...
NR_174379.1:n.1223_1288dup
NR_174380.1:n.1272_1337dup
NR_174381.1:n.1111_1176dup
NR_174382.1:n.1508_1573dup
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