Canonical Allele Identifier: CA762308459
Community Standard Title: NM_014362.4(HIBCH):c.1011+19_1011+20dup
Gene: HIBCH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.190212944_190212945dup , CM000664.2:g.190212944_190212945dup GRCh38
NC_000002.11:g.191077670_191077671dup , CM000664.1:g.191077670_191077671dup GRCh37
NC_000002.10:g.190785915_190785916dup NCBI36
NG_017062.1:g.112109_112110dup

Transcript Alleles

HGVS Amino-acid Change
NM_014362.4:c.1011+19_1011+20dup MANE Select NP_055177.2:n.1011+19_1011+20dup
ENST00000359678.10:c.1011+19_1011+20dup MANE Select ENSP00000352706.5:n.1011+19_1011+20dup
NM_014362.3:c.1011+19_1011+20dup NP_055177.2:n.1011+19_1011+20dup
NM_198047.2:c.1011+19_1011+20dup NP_932164.1:n.1011+19_1011+20dup
NM_198047.3:c.1011+19_1011+20dup NP_932164.1:n.1011+19_1011+20dup
ENST00000359678.9:c.1011+19_1011+20dup ENSP00000352706.5:n.1011+19_1011+20dup
ENST00000392332.7:c.1011+19_1011+20dup ENSP00000376144.3:n.1011+19_1011+20dup
ENST00000409820.2:c.351+19_351+20dup ENSP00000387098.2:n.351+19_351+20dup
ENST00000410045.5:c.342+19_342+20dup ENSP00000386274.1:n.342+19_342+20dup
ENST00000416732.5:c.264+19_264+20dup ENSP00000399263.1:n.264+19_264+20dup
ENST00000486981.1:n.280+19_280+20dup
ENST00000489147.1:n.3154+19_3154+20dup
ENST00000622246.4:c.993+19_993+20dup ENSP00000481055.1:n.993+19_993+20dup
XM_011510953.1:c.1011+19_1011+20dup XP_011509255.1:n.1011+19_1011+20dup
XM_011510953.2:c.1011+19_1011+20dup XP_011509255.1:n.1011+19_1011+20dup
XM_011510954.1:c.513+19_513+20dup XP_011509256.1:n.513+19_513+20dup
XR_922903.1:n.1255+19_1255+20dup
XR_922903.2:n.1074+19_1074+20dup