Canonical Allele Identifier: CA62635722

Gene: HIBCH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190213019del , CM000664.2:g.190213019del	GRCh38
NC_000002.11:g.191077745del , CM000664.1:g.191077745del	GRCh37
NC_000002.10:g.190785990del	NCBI36
NG_017062.1:g.112030del

Transcript Alleles

HGVS	Amino-acid Change
NM_014362.4:c.951del MANE Select	NP_055177.2:p.Ser318LeufsTer9
ENST00000359678.10:c.951del MANE Select	ENSP00000352706.5:p.Ser318LeufsTer9
NM_014362.3:c.951del	NP_055177.2:p.Ser318LeufsTer9
NM_198047.2:c.951del	NP_932164.1:p.Ser318LeufsTer9
NM_198047.3:c.951del	NP_932164.1:p.Ser318LeufsTer9
ENST00000359678.9:c.951del	ENSP00000352706.5:p.Ser318LeufsTer9
ENST00000392332.7:c.951del	ENSP00000376144.3:p.Ser318LeufsTer9
ENST00000409820.2:c.291del	ENSP00000387098.2:p.Ser98LeufsTer9
ENST00000410045.5:c.282del	ENSP00000386274.1:p.Ser95LeufsTer9
ENST00000416732.5:c.204del	ENSP00000399263.1:p.Ser69LeufsTer9
ENST00000486981.1:n.220del
ENST00000489147.1:n.3094del
ENST00000622246.4:c.933del	ENSP00000481055.1:p.Ser312LeufsTer9
XM_011510953.1:c.951del	XP_011509255.1:p.Ser318LeufsTer9
XM_011510953.2:c.951del	XP_011509255.1:p.Ser318LeufsTer9
XM_011510954.1:c.453del	XP_011509256.1:p.Ser152LeufsTer9
XR_922903.1:n.1195del
XR_922903.2:n.1014del