Canonical Allele Identifier: CA16617403
Gene: HIBCH HGNC NCBI

Linked Data

ClinVar Variation Id: 424194
ClinVar RCV Id: RCV000479236
dbSNP Id: rs1064796851
MyVariant Identifiers: chr2:g.191069882_191069884del (hg19) chr2:g.190205156_190205158del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.190205159_190205161del , CM000664.2:g.190205159_190205161del GRCh38
NC_000002.11:g.191069885_191069887del , CM000664.1:g.191069885_191069887del GRCh37
NC_000002.10:g.190778130_190778132del NCBI36
NG_017062.1:g.119888_119890del

Transcript Alleles

HGVS Amino-acid change
ENST00000359678.10:c.1120_1122del MANE Select ENSP00000352706.5:p.Asn374del
ENST00000359678.9:c.1120_1122del ENSP00000352706.5:p.Asn374del
ENST00000392332.7:c.*69_*71del ENSP00000376144.3:n.*69_*71del
ENST00000399855.2:c.75_77del
ENST00000410045.5:c.451_453del ENSP00000386274.1:p.Asn151del
ENST00000486981.1:n.355_357del
ENST00000622246.4:c.1102_1104del ENSP00000481055.1:p.Asn368del
NM_014362.3:c.1120_1122del NP_055177.2:p.Asn374del
NM_198047.2:c.*69_*71del NP_932164.1:n.*69_*71del
XM_011510953.1:c.1120_1122del XP_011509255.1:p.Asn374del
XM_011510954.1:c.622_624del XP_011509256.1:p.Asn208del
XR_922903.1:n.1330_1332del
XM_011510953.2:c.1120_1122del XP_011509255.1:p.Asn374del
XR_922903.2:n.1149_1151del
NM_014362.4:c.1120_1122del MANE Select NP_055177.2:p.Asn374del
NM_198047.3:c.*69_*71del NP_932164.1:n.*69_*71del
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