Canonical Allele Identifier: CA2003780758

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119085296_119085300delinsATTGT , CM000673.2:g.119085296_119085300delinsATTGT	GRCh38
NC_000011.9:g.118956006_118956010delinsATTGT , CM000673.1:g.118956006_118956010delinsATTGT	GRCh37
NC_000011.8:g.118461216_118461220delinsATTGT	NCBI36
NG_008093.1:g.5420_5424delinsATTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.-676_-672delinsATTGT	ENSP00000509288.1:n.-676_-672delinsATTGT
ENST00000691249.1:n.74_78delinsATTGT
ENST00000442944.7:c.33+230_33+234delinsATTGT	ENSP00000392041.3:n.33+230_33+234delinsATTGT
ENST00000534956.2:n.36+230_36+234delinsATTGT
ENST00000536813.6:c.-102+230_-102+234delinsATTGT	ENSP00000438726.2:n.-102+230_-102+234delinsATTGT
ENST00000546302.6:c.33+230_33+234delinsATTGT	ENSP00000445599.1:n.33+230_33+234delinsATTGT
ENST00000640813.1:c.-19+230_-19+234delinsATTGT	ENSP00000491061.1:n.-19+230_-19+234delinsATTGT
ENST00000648026.1:c.27+230_27+234delinsATTGT	ENSP00000498044.1:n.27+230_27+234delinsATTGT
ENST00000649823.1:n.7_11delinsATTGT
ENST00000649868.1:c.33+230_33+234delinsATTGT	ENSP00000497548.1:n.33+230_33+234delinsATTGT
ENST00000650101.1:c.-616_-612delinsATTGT	ENSP00000496970.1:n.-616_-612delinsATTGT
ENST00000650307.1:n.53_57delinsATTGT
ENST00000652429.1:c.33+230_33+234delinsATTGT MANE Select	ENSP00000498786.1:n.33+230_33+234delinsATTGT
ENST00000278715.7:c.33+230_33+234delinsATTGT	ENSP00000278715.3:n.33+230_33+234delinsATTGT
ENST00000442944.6:c.-102+230_-102+234delinsATTGT	ENSP00000392041.2:n.-102+230_-102+234delinsATTGT
ENST00000535793.5:c.33+230_33+234delinsATTGT	ENSP00000439904.1:n.33+230_33+234delinsATTGT
ENST00000536185.5:n.201+230_201+234delinsATTGT
ENST00000536813.5:c.33+230_33+234delinsATTGT	ENSP00000438726.1:n.33+230_33+234delinsATTGT
ENST00000537841.5:c.-19+139_-19+143delinsATTGT	ENSP00000444730.1:n.-19+139_-19+143delinsATTGT
ENST00000542044.5:n.158+230_158+234delinsATTGT
ENST00000542729.5:c.-19+139_-19+143delinsATTGT	ENSP00000443058.1:n.-19+139_-19+143delinsATTGT
ENST00000542822.5:c.124+139_124+143delinsATTGT	ENSP00000444817.1:n.124+139_124+143delinsATTGT
ENST00000543090.5:c.33+230_33+234delinsATTGT	ENSP00000445429.1:n.33+230_33+234delinsATTGT
ENST00000543821.5:n.179+230_179+234delinsATTGT
ENST00000544387.5:c.33+230_33+234delinsATTGT	ENSP00000438424.1:n.33+230_33+234delinsATTGT
ENST00000545621.5:c.33+230_33+234delinsATTGT	ENSP00000444849.1:n.33+230_33+234delinsATTGT
ENST00000545901.5:n.186+230_186+234delinsATTGT
ENST00000546302.5:c.33+230_33+234delinsATTGT	ENSP00000445599.1:n.33+230_33+234delinsATTGT
NM_000190.3:c.33+230_33+234delinsATTGT	NP_000181.2:n.33+230_33+234delinsATTGT
NM_001258208.1:c.33+230_33+234delinsATTGT	NP_001245137.1:n.33+230_33+234delinsATTGT
NM_001258209.1:c.-19+139_-19+143delinsATTGT	NP_001245138.1:n.-19+139_-19+143delinsATTGT
XM_005271531.1:c.-19+139_-19+143delinsATTGT	XP_005271588.1:n.-19+139_-19+143delinsATTGT
XM_005271532.1:c.-19+163_-19+167delinsATTGT	XP_005271589.1:n.-19+163_-19+167delinsATTGT
XM_005271533.2:c.33+230_33+234delinsATTGT	XP_005271590.1:n.33+230_33+234delinsATTGT
NM_000190.4:c.33+230_33+234delinsATTGT MANE Select	NP_000181.2:n.33+230_33+234delinsATTGT
XM_005271533.3:c.33+230_33+234delinsATTGT	XP_005271590.1:n.33+230_33+234delinsATTGT
XM_024448460.1:c.33+230_33+234delinsATTGT	XP_024304228.1:n.33+230_33+234delinsATTGT
NM_001258208.2:c.33+230_33+234delinsATTGT	NP_001245137.1:n.33+230_33+234delinsATTGT
NM_001258209.2:c.-19+139_-19+143delinsATTGT	NP_001245138.1:n.-19+139_-19+143delinsATTGT