Canonical Allele Identifier: CA2753609346

Gene: HIBCH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190212928_190212930del , CM000664.2:g.190212928_190212930del	GRCh38
NC_000002.11:g.191077654_191077656del , CM000664.1:g.191077654_191077656del	GRCh37
NC_000002.10:g.190785899_190785901del	NCBI36
NG_017062.1:g.112119_112121del

Transcript Alleles

HGVS	Amino-acid Change
NM_014362.4:c.1011+29_1011+31del MANE Select	NP_055177.2:n.1011+29_1011+31del
ENST00000359678.10:c.1011+29_1011+31del MANE Select	ENSP00000352706.5:n.1011+29_1011+31del
NM_014362.3:c.1011+29_1011+31del	NP_055177.2:n.1011+29_1011+31del
NM_198047.2:c.1011+29_1011+31del	NP_932164.1:n.1011+29_1011+31del
NM_198047.3:c.1011+29_1011+31del	NP_932164.1:n.1011+29_1011+31del
ENST00000359678.9:c.1011+29_1011+31del	ENSP00000352706.5:n.1011+29_1011+31del
ENST00000392332.7:c.1011+29_1011+31del	ENSP00000376144.3:n.1011+29_1011+31del
ENST00000409820.2:c.351+29_351+31del	ENSP00000387098.2:n.351+29_351+31del
ENST00000410045.5:c.342+29_342+31del	ENSP00000386274.1:n.342+29_342+31del
ENST00000416732.5:c.264+29_264+31del	ENSP00000399263.1:n.264+29_264+31del
ENST00000486981.1:n.280+29_280+31del
ENST00000489147.1:n.3154+29_3154+31del
ENST00000622246.4:c.993+29_993+31del	ENSP00000481055.1:n.993+29_993+31del
XM_011510953.1:c.1011+29_1011+31del	XP_011509255.1:n.1011+29_1011+31del
XM_011510953.2:c.1011+29_1011+31del	XP_011509255.1:n.1011+29_1011+31del
XM_011510954.1:c.513+29_513+31del	XP_011509256.1:n.513+29_513+31del
XR_922903.1:n.1255+29_1255+31del
XR_922903.2:n.1074+29_1074+31del