Canonical Allele Identifier: CA279159

Gene: HIBCH

Linked Data

• ClinVar Variation Id: 217316
• ClinVar RCV Id: RCV000201262 ; RCV002510816
• dbSNP Id: rs863225062
• gnomAD v4: 2-190205149-T-TA
• MyVariant Identifiers: chr2:g.191069876dupA (hg19) ; chr2:g.191069875_191069876insA (hg19) ; chr2:g.190205150dupA (hg38) ; chr2:g.190205149_190205150insA (hg38)
• PubMed: PMID:25251209

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190205152dup , CM000664.2:g.190205152dup	GRCh38
NC_000002.11:g.191069878dup , CM000664.1:g.191069878dup	GRCh37
NC_000002.10:g.190778123dup	NCBI36
NG_017062.1:g.119896dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000359678.10:c.1128dup MANE Select	ENSP00000352706.5:p.Lys377Ter
ENST00000359678.9:c.1128dup	ENSP00000352706.5:p.Lys377Ter
ENST00000392332.7:c.*77dup	ENSP00000376144.3:n.*77dup
ENST00000399855.2:c.83dup
ENST00000410045.5:c.459dup	ENSP00000386274.1:p.Lys154Ter
ENST00000486981.1:n.363dup
ENST00000622246.4:c.1110dup	ENSP00000481055.1:p.Lys371Ter
NM_014362.3:c.1128dup	NP_055177.2:p.Lys377Ter
NM_198047.2:c.*77dup	NP_932164.1:n.*77dup
XM_011510953.1:c.1128dup	XP_011509255.1:p.Lys377Ter
XM_011510954.1:c.630dup	XP_011509256.1:p.Lys211Ter
XR_922903.1:n.1338dup
XM_011510953.2:c.1128dup	XP_011509255.1:p.Lys377Ter
XR_922903.2:n.1157dup
NM_014362.4:c.1128dup MANE Select	NP_055177.2:p.Lys377Ter
NM_198047.3:c.*77dup	NP_932164.1:n.*77dup