Canonical Allele Identifier: CA2003780696

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119085201_119085213delinsTGGTCCGAGTAGC , CM000673.2:g.119085201_119085213delinsTGGTCCGAGTAGC	GRCh38
NC_000011.9:g.118955911_118955923delinsTGGTCCGAGTAGC , CM000673.1:g.118955911_118955923delinsTGGTCCGAGTAGC	GRCh37
NC_000011.8:g.118461121_118461133delinsTGGTCCGAGTAGC	NCBI36
NG_008093.1:g.5325_5337delinsTGGTCCGAGTAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442944.7:c.33+135_33+147delinsTGGTCCGAGTAGC	ENSP00000392041.3:n.33+135_33+147delinsTGGTCCGAGTAGC
ENST00000534956.2:n.36+135_36+147delinsTGGTCCGAGTAGC
ENST00000536813.6:c.-102+135_-102+147delinsTGGTCCGAGTAGC	ENSP00000438726.2:n.-102+135_-102+147delinsTGGTCCGAGTAGC
ENST00000546302.6:c.33+135_33+147delinsTGGTCCGAGTAGC	ENSP00000445599.1:n.33+135_33+147delinsTGGTCCGAGTAGC
ENST00000640813.1:c.-19+135_-19+147delinsTGGTCCGAGTAGC	ENSP00000491061.1:n.-19+135_-19+147delinsTGGTCCGAGTAGC
ENST00000648026.1:c.27+135_27+147delinsTGGTCCGAGTAGC	ENSP00000498044.1:n.27+135_27+147delinsTGGTCCGAGTAGC
ENST00000649868.1:c.33+135_33+147delinsTGGTCCGAGTAGC	ENSP00000497548.1:n.33+135_33+147delinsTGGTCCGAGTAGC
ENST00000652429.1:c.33+135_33+147delinsTGGTCCGAGTAGC MANE Select	ENSP00000498786.1:n.33+135_33+147delinsTGGTCCGAGTAGC
ENST00000278715.7:c.33+135_33+147delinsTGGTCCGAGTAGC	ENSP00000278715.3:n.33+135_33+147delinsTGGTCCGAGTAGC
ENST00000442944.6:c.-102+135_-102+147delinsTGGTCCGAGTAGC	ENSP00000392041.2:n.-102+135_-102+147delinsTGGTCCGAGTAGC
ENST00000535793.5:c.33+135_33+147delinsTGGTCCGAGTAGC	ENSP00000439904.1:n.33+135_33+147delinsTGGTCCGAGTAGC
ENST00000536185.5:n.201+135_201+147delinsTGGTCCGAGTAGC
ENST00000536813.5:c.33+135_33+147delinsTGGTCCGAGTAGC	ENSP00000438726.1:n.33+135_33+147delinsTGGTCCGAGTAGC
ENST00000537841.5:c.-19+44_-19+56delinsTGGTCCGAGTAGC	ENSP00000444730.1:n.-19+44_-19+56delinsTGGTCCGAGTAGC
ENST00000542044.5:n.158+135_158+147delinsTGGTCCGAGTAGC
ENST00000542729.5:c.-19+44_-19+56delinsTGGTCCGAGTAGC	ENSP00000443058.1:n.-19+44_-19+56delinsTGGTCCGAGTAGC
ENST00000542822.5:c.124+44_124+56delinsTGGTCCGAGTAGC	ENSP00000444817.1:n.124+44_124+56delinsTGGTCCGAGTAGC
ENST00000543090.5:c.33+135_33+147delinsTGGTCCGAGTAGC	ENSP00000445429.1:n.33+135_33+147delinsTGGTCCGAGTAGC
ENST00000543821.5:n.179+135_179+147delinsTGGTCCGAGTAGC
ENST00000544387.5:c.33+135_33+147delinsTGGTCCGAGTAGC	ENSP00000438424.1:n.33+135_33+147delinsTGGTCCGAGTAGC
ENST00000545621.5:c.33+135_33+147delinsTGGTCCGAGTAGC	ENSP00000444849.1:n.33+135_33+147delinsTGGTCCGAGTAGC
ENST00000545901.5:n.186+135_186+147delinsTGGTCCGAGTAGC
ENST00000546302.5:c.33+135_33+147delinsTGGTCCGAGTAGC	ENSP00000445599.1:n.33+135_33+147delinsTGGTCCGAGTAGC
NM_000190.3:c.33+135_33+147delinsTGGTCCGAGTAGC	NP_000181.2:n.33+135_33+147delinsTGGTCCGAGTAGC
NM_001258208.1:c.33+135_33+147delinsTGGTCCGAGTAGC	NP_001245137.1:n.33+135_33+147delinsTGGTCCGAGTAGC
NM_001258209.1:c.-19+44_-19+56delinsTGGTCCGAGTAGC	NP_001245138.1:n.-19+44_-19+56delinsTGGTCCGAGTAGC
XM_005271531.1:c.-19+44_-19+56delinsTGGTCCGAGTAGC	XP_005271588.1:n.-19+44_-19+56delinsTGGTCCGAGTAGC
XM_005271532.1:c.-19+68_-19+80delinsTGGTCCGAGTAGC	XP_005271589.1:n.-19+68_-19+80delinsTGGTCCGAGTAGC
XM_005271533.2:c.33+135_33+147delinsTGGTCCGAGTAGC	XP_005271590.1:n.33+135_33+147delinsTGGTCCGAGTAGC
NM_000190.4:c.33+135_33+147delinsTGGTCCGAGTAGC MANE Select	NP_000181.2:n.33+135_33+147delinsTGGTCCGAGTAGC
XM_005271533.3:c.33+135_33+147delinsTGGTCCGAGTAGC	XP_005271590.1:n.33+135_33+147delinsTGGTCCGAGTAGC
XM_024448460.1:c.33+135_33+147delinsTGGTCCGAGTAGC	XP_024304228.1:n.33+135_33+147delinsTGGTCCGAGTAGC
NM_001258208.2:c.33+135_33+147delinsTGGTCCGAGTAGC	NP_001245137.1:n.33+135_33+147delinsTGGTCCGAGTAGC
NM_001258209.2:c.-19+44_-19+56delinsTGGTCCGAGTAGC	NP_001245138.1:n.-19+44_-19+56delinsTGGTCCGAGTAGC