Canonical Allele Identifier: CA2003780759

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119085302_119085307delinsTGGAAC , CM000673.2:g.119085302_119085307delinsTGGAAC	GRCh38
NC_000011.9:g.118956012_118956017delinsTGGAAC , CM000673.1:g.118956012_118956017delinsTGGAAC	GRCh37
NC_000011.8:g.118461222_118461227delinsTGGAAC	NCBI36
NG_008093.1:g.5426_5431delinsTGGAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.-670_-665delinsTGGAAC	ENSP00000509288.1:n.-670_-665delinsTGGAAC
ENST00000691249.1:n.80_85delinsTGGAAC
ENST00000442944.7:c.33+236_33+241delinsTGGAAC	ENSP00000392041.3:n.33+236_33+241delinsTGGAAC
ENST00000534956.2:n.36+236_36+241delinsTGGAAC
ENST00000536813.6:c.-102+236_-102+241delinsTGGAAC	ENSP00000438726.2:n.-102+236_-102+241delinsTGGAAC
ENST00000546302.6:c.33+236_33+241delinsTGGAAC	ENSP00000445599.1:n.33+236_33+241delinsTGGAAC
ENST00000640813.1:c.-19+236_-19+241delinsTGGAAC	ENSP00000491061.1:n.-19+236_-19+241delinsTGGAAC
ENST00000648026.1:c.27+236_27+241delinsTGGAAC	ENSP00000498044.1:n.27+236_27+241delinsTGGAAC
ENST00000649823.1:n.13_18delinsTGGAAC
ENST00000649868.1:c.33+236_33+241delinsTGGAAC	ENSP00000497548.1:n.33+236_33+241delinsTGGAAC
ENST00000650101.1:c.-610_-605delinsTGGAAC	ENSP00000496970.1:n.-610_-605delinsTGGAAC
ENST00000650307.1:n.59_64delinsTGGAAC
ENST00000652429.1:c.33+236_33+241delinsTGGAAC MANE Select	ENSP00000498786.1:n.33+236_33+241delinsTGGAAC
ENST00000278715.7:c.33+236_33+241delinsTGGAAC	ENSP00000278715.3:n.33+236_33+241delinsTGGAAC
ENST00000442944.6:c.-102+236_-102+241delinsTGGAAC	ENSP00000392041.2:n.-102+236_-102+241delinsTGGAAC
ENST00000535793.5:c.33+236_33+241delinsTGGAAC	ENSP00000439904.1:n.33+236_33+241delinsTGGAAC
ENST00000536185.5:n.201+236_201+241delinsTGGAAC
ENST00000536813.5:c.33+236_33+241delinsTGGAAC	ENSP00000438726.1:n.33+236_33+241delinsTGGAAC
ENST00000537841.5:c.-19+145_-19+150delinsTGGAAC	ENSP00000444730.1:n.-19+145_-19+150delinsTGGAAC
ENST00000542044.5:n.158+236_158+241delinsTGGAAC
ENST00000542729.5:c.-19+145_-19+150delinsTGGAAC	ENSP00000443058.1:n.-19+145_-19+150delinsTGGAAC
ENST00000542822.5:c.124+145_124+150delinsTGGAAC	ENSP00000444817.1:n.124+145_124+150delinsTGGAAC
ENST00000543090.5:c.33+236_33+241delinsTGGAAC	ENSP00000445429.1:n.33+236_33+241delinsTGGAAC
ENST00000543821.5:n.179+236_179+241delinsTGGAAC
ENST00000544387.5:c.33+236_33+241delinsTGGAAC	ENSP00000438424.1:n.33+236_33+241delinsTGGAAC
ENST00000545621.5:c.33+236_33+241delinsTGGAAC	ENSP00000444849.1:n.33+236_33+241delinsTGGAAC
ENST00000545901.5:n.186+236_186+241delinsTGGAAC
ENST00000546302.5:c.33+236_33+241delinsTGGAAC	ENSP00000445599.1:n.33+236_33+241delinsTGGAAC
NM_000190.3:c.33+236_33+241delinsTGGAAC	NP_000181.2:n.33+236_33+241delinsTGGAAC
NM_001258208.1:c.33+236_33+241delinsTGGAAC	NP_001245137.1:n.33+236_33+241delinsTGGAAC
NM_001258209.1:c.-19+145_-19+150delinsTGGAAC	NP_001245138.1:n.-19+145_-19+150delinsTGGAAC
XM_005271531.1:c.-19+145_-19+150delinsTGGAAC	XP_005271588.1:n.-19+145_-19+150delinsTGGAAC
XM_005271532.1:c.-19+169_-19+174delinsTGGAAC	XP_005271589.1:n.-19+169_-19+174delinsTGGAAC
XM_005271533.2:c.33+236_33+241delinsTGGAAC	XP_005271590.1:n.33+236_33+241delinsTGGAAC
NM_000190.4:c.33+236_33+241delinsTGGAAC MANE Select	NP_000181.2:n.33+236_33+241delinsTGGAAC
XM_005271533.3:c.33+236_33+241delinsTGGAAC	XP_005271590.1:n.33+236_33+241delinsTGGAAC
XM_024448460.1:c.33+236_33+241delinsTGGAAC	XP_024304228.1:n.33+236_33+241delinsTGGAAC
NM_001258208.2:c.33+236_33+241delinsTGGAAC	NP_001245137.1:n.33+236_33+241delinsTGGAAC
NM_001258209.2:c.-19+145_-19+150delinsTGGAAC	NP_001245138.1:n.-19+145_-19+150delinsTGGAAC