Canonical Allele Identifier: CA1315939244

Gene: HIBCH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190212935_190212936delinsAT , CM000664.2:g.190212935_190212936delinsAT	GRCh38
NC_000002.11:g.191077661_191077662delinsAT , CM000664.1:g.191077661_191077662delinsAT	GRCh37
NC_000002.10:g.190785906_190785907delinsAT	NCBI36
NG_017062.1:g.112110_112111delinsAT

Transcript Alleles

HGVS	Amino-acid Change
NM_014362.4:c.1011+20_1011+21delinsAT MANE Select	NP_055177.2:n.1011+20_1011+21delinsAT
ENST00000359678.10:c.1011+20_1011+21delinsAT MANE Select	ENSP00000352706.5:n.1011+20_1011+21delinsAT
NM_014362.3:c.1011+20_1011+21delinsAT	NP_055177.2:n.1011+20_1011+21delinsAT
NM_198047.2:c.1011+20_1011+21delinsAT	NP_932164.1:n.1011+20_1011+21delinsAT
NM_198047.3:c.1011+20_1011+21delinsAT	NP_932164.1:n.1011+20_1011+21delinsAT
ENST00000359678.9:c.1011+20_1011+21delinsAT	ENSP00000352706.5:n.1011+20_1011+21delinsAT
ENST00000392332.7:c.1011+20_1011+21delinsAT	ENSP00000376144.3:n.1011+20_1011+21delinsAT
ENST00000409820.2:c.351+20_351+21delinsAT	ENSP00000387098.2:n.351+20_351+21delinsAT
ENST00000410045.5:c.342+20_342+21delinsAT	ENSP00000386274.1:n.342+20_342+21delinsAT
ENST00000416732.5:c.264+20_264+21delinsAT	ENSP00000399263.1:n.264+20_264+21delinsAT
ENST00000486981.1:n.280+20_280+21delinsAT
ENST00000489147.1:n.3154+20_3154+21delinsAT
ENST00000622246.4:c.993+20_993+21delinsAT	ENSP00000481055.1:n.993+20_993+21delinsAT
XM_011510953.1:c.1011+20_1011+21delinsAT	XP_011509255.1:n.1011+20_1011+21delinsAT
XM_011510953.2:c.1011+20_1011+21delinsAT	XP_011509255.1:n.1011+20_1011+21delinsAT
XM_011510954.1:c.513+20_513+21delinsAT	XP_011509256.1:n.513+20_513+21delinsAT
XR_922903.1:n.1255+20_1255+21delinsAT
XR_922903.2:n.1074+20_1074+21delinsAT