Canonical Allele Identifier: CA2607025432
Community Standard Title: NM_014362.4(HIBCH):c.1011+18_1011+19insC
Gene: HIBCH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.190212937_190212938insG , CM000664.2:g.190212937_190212938insG GRCh38
NC_000002.11:g.191077663_191077664insG , CM000664.1:g.191077663_191077664insG GRCh37
NC_000002.10:g.190785908_190785909insG NCBI36
NG_017062.1:g.112108_112109insC

Transcript Alleles

HGVS Amino-acid Change
NM_014362.4:c.1011+18_1011+19insC MANE Select NP_055177.2:n.1011+18_1011+19insC
ENST00000359678.10:c.1011+18_1011+19insC MANE Select ENSP00000352706.5:n.1011+18_1011+19insC
NM_014362.3:c.1011+18_1011+19insC NP_055177.2:n.1011+18_1011+19insC
NM_198047.2:c.1011+18_1011+19insC NP_932164.1:n.1011+18_1011+19insC
NM_198047.3:c.1011+18_1011+19insC NP_932164.1:n.1011+18_1011+19insC
ENST00000359678.9:c.1011+18_1011+19insC ENSP00000352706.5:n.1011+18_1011+19insC
ENST00000392332.7:c.1011+18_1011+19insC ENSP00000376144.3:n.1011+18_1011+19insC
ENST00000409820.2:c.351+18_351+19insC ENSP00000387098.2:n.351+18_351+19insC
ENST00000410045.5:c.342+18_342+19insC ENSP00000386274.1:n.342+18_342+19insC
ENST00000416732.5:c.264+18_264+19insC ENSP00000399263.1:n.264+18_264+19insC
ENST00000486981.1:n.280+18_280+19insC
ENST00000489147.1:n.3154+18_3154+19insC
ENST00000622246.4:c.993+18_993+19insC ENSP00000481055.1:n.993+18_993+19insC
XM_011510953.1:c.1011+18_1011+19insC XP_011509255.1:n.1011+18_1011+19insC
XM_011510953.2:c.1011+18_1011+19insC XP_011509255.1:n.1011+18_1011+19insC
XM_011510954.1:c.513+18_513+19insC XP_011509256.1:n.513+18_513+19insC
XR_922903.1:n.1255+18_1255+19insC
XR_922903.2:n.1074+18_1074+19insC