Canonical Allele Identifier: CA2793833249

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119085290_119085291del , CM000673.2:g.119085290_119085291del	GRCh38
NC_000011.9:g.118956000_118956001del , CM000673.1:g.118956000_118956001del	GRCh37
NC_000011.8:g.118461210_118461211del	NCBI36
NG_008093.1:g.5414_5415del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.-682_-681del	ENSP00000509288.1:n.-682_-681del
ENST00000691249.1:n.68_69del
ENST00000442944.7:c.33+224_33+225del	ENSP00000392041.3:n.33+224_33+225del
ENST00000534956.2:n.36+224_36+225del
ENST00000536813.6:c.-102+224_-102+225del	ENSP00000438726.2:n.-102+224_-102+225del
ENST00000546302.6:c.33+224_33+225del	ENSP00000445599.1:n.33+224_33+225del
ENST00000640813.1:c.-19+224_-19+225del	ENSP00000491061.1:n.-19+224_-19+225del
ENST00000648026.1:c.27+224_27+225del	ENSP00000498044.1:n.27+224_27+225del
ENST00000649823.1:n.1_2del
ENST00000649868.1:c.33+224_33+225del	ENSP00000497548.1:n.33+224_33+225del
ENST00000650101.1:c.-622_-621del	ENSP00000496970.1:n.-622_-621del
ENST00000650307.1:n.47_48del
ENST00000652429.1:c.33+224_33+225del MANE Select	ENSP00000498786.1:n.33+224_33+225del
ENST00000278715.7:c.33+224_33+225del	ENSP00000278715.3:n.33+224_33+225del
ENST00000442944.6:c.-102+224_-102+225del	ENSP00000392041.2:n.-102+224_-102+225del
ENST00000535793.5:c.33+224_33+225del	ENSP00000439904.1:n.33+224_33+225del
ENST00000536185.5:n.201+224_201+225del
ENST00000536813.5:c.33+224_33+225del	ENSP00000438726.1:n.33+224_33+225del
ENST00000537841.5:c.-19+133_-19+134del	ENSP00000444730.1:n.-19+133_-19+134del
ENST00000542044.5:n.158+224_158+225del
ENST00000542729.5:c.-19+133_-19+134del	ENSP00000443058.1:n.-19+133_-19+134del
ENST00000542822.5:c.124+133_124+134del	ENSP00000444817.1:n.124+133_124+134del
ENST00000543090.5:c.33+224_33+225del	ENSP00000445429.1:n.33+224_33+225del
ENST00000543821.5:n.179+224_179+225del
ENST00000544387.5:c.33+224_33+225del	ENSP00000438424.1:n.33+224_33+225del
ENST00000545621.5:c.33+224_33+225del	ENSP00000444849.1:n.33+224_33+225del
ENST00000545901.5:n.186+224_186+225del
ENST00000546302.5:c.33+224_33+225del	ENSP00000445599.1:n.33+224_33+225del
NM_000190.3:c.33+224_33+225del	NP_000181.2:n.33+224_33+225del
NM_001258208.1:c.33+224_33+225del	NP_001245137.1:n.33+224_33+225del
NM_001258209.1:c.-19+133_-19+134del	NP_001245138.1:n.-19+133_-19+134del
XM_005271531.1:c.-19+133_-19+134del	XP_005271588.1:n.-19+133_-19+134del
XM_005271532.1:c.-19+157_-19+158del	XP_005271589.1:n.-19+157_-19+158del
XM_005271533.2:c.33+224_33+225del	XP_005271590.1:n.33+224_33+225del
NM_000190.4:c.33+224_33+225del MANE Select	NP_000181.2:n.33+224_33+225del
XM_005271533.3:c.33+224_33+225del	XP_005271590.1:n.33+224_33+225del
XM_024448460.1:c.33+224_33+225del	XP_024304228.1:n.33+224_33+225del
NM_001258208.2:c.33+224_33+225del	NP_001245137.1:n.33+224_33+225del
NM_001258209.2:c.-19+133_-19+134del	NP_001245138.1:n.-19+133_-19+134del