Canonical Allele Identifier: CA1315935870

Gene: HIBCH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190205147_190205149delinsCTT , CM000664.2:g.190205147_190205149delinsCTT	GRCh38
NC_000002.11:g.191069873_191069875delinsCTT , CM000664.1:g.191069873_191069875delinsCTT	GRCh37
NC_000002.10:g.190778118_190778120delinsCTT	NCBI36
NG_017062.1:g.119897_119899delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359678.10:c.1129_1131delinsAAG MANE Select	ENSP00000352706.5:p.Lys377=
ENST00000359678.9:c.1129_1131delinsAAG	ENSP00000352706.5:p.Lys377=
ENST00000392332.7:c.*78_*80delinsAAG	ENSP00000376144.3:n.*78_*80delinsAAG
ENST00000399855.2:c.84_86delinsAAG
ENST00000410045.5:c.460_462delinsAAG	ENSP00000386274.1:p.Lys154=
ENST00000486981.1:n.364_366delinsAAG
ENST00000622246.4:c.1111_1113delinsAAG	ENSP00000481055.1:p.Lys371=
NM_014362.3:c.1129_1131delinsAAG	NP_055177.2:p.Lys377=
NM_198047.2:c.*78_*80delinsAAG	NP_932164.1:n.*78_*80delinsAAG
XM_011510953.1:c.1129_1131delinsAAG	XP_011509255.1:p.Lys377=
XM_011510954.1:c.631_633delinsAAG	XP_011509256.1:p.Lys211=
XR_922903.1:n.1339_1341delinsAAG
XM_011510953.2:c.1129_1131delinsAAG	XP_011509255.1:p.Lys377=
XR_922903.2:n.1158_1160delinsAAG
NM_014362.4:c.1129_1131delinsAAG MANE Select	NP_055177.2:p.Lys377=
NM_198047.3:c.*78_*80delinsAAG	NP_932164.1:n.*78_*80delinsAAG