Canonical Allele Identifier: CA2971736146

Gene: HIBCH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190212942_190212945del , CM000664.2:g.190212942_190212945del	GRCh38
NC_000002.11:g.191077668_191077671del , CM000664.1:g.191077668_191077671del	GRCh37
NC_000002.10:g.190785913_190785916del	NCBI36
NG_017062.1:g.112107_112110del

Transcript Alleles

HGVS	Amino-acid Change
NM_014362.4:c.1011+17_1011+20del MANE Select	NP_055177.2:n.1011+17_1011+20del
ENST00000359678.10:c.1011+17_1011+20del MANE Select	ENSP00000352706.5:n.1011+17_1011+20del
NM_014362.3:c.1011+17_1011+20del	NP_055177.2:n.1011+17_1011+20del
NM_198047.2:c.1011+17_1011+20del	NP_932164.1:n.1011+17_1011+20del
NM_198047.3:c.1011+17_1011+20del	NP_932164.1:n.1011+17_1011+20del
ENST00000359678.9:c.1011+17_1011+20del	ENSP00000352706.5:n.1011+17_1011+20del
ENST00000392332.7:c.1011+17_1011+20del	ENSP00000376144.3:n.1011+17_1011+20del
ENST00000409820.2:c.351+17_351+20del	ENSP00000387098.2:n.351+17_351+20del
ENST00000410045.5:c.342+17_342+20del	ENSP00000386274.1:n.342+17_342+20del
ENST00000416732.5:c.264+17_264+20del	ENSP00000399263.1:n.264+17_264+20del
ENST00000486981.1:n.280+17_280+20del
ENST00000489147.1:n.3154+17_3154+20del
ENST00000622246.4:c.993+17_993+20del	ENSP00000481055.1:n.993+17_993+20del
XM_011510953.1:c.1011+17_1011+20del	XP_011509255.1:n.1011+17_1011+20del
XM_011510953.2:c.1011+17_1011+20del	XP_011509255.1:n.1011+17_1011+20del
XM_011510954.1:c.513+17_513+20del	XP_011509256.1:n.513+17_513+20del
XR_922903.1:n.1255+17_1255+20del
XR_922903.2:n.1074+17_1074+20del