Canonical Allele Identifier: CA2616352748

Gene: HMBS

Linked Data

• gnomAD v4: 11-119085172-C-CTTTGTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119085175_119085176insGTTTTTTT , CM000673.2:g.119085175_119085176insGTTTTTTT	GRCh38
NC_000011.9:g.118955885_118955886insGTTTTTTT , CM000673.1:g.118955885_118955886insGTTTTTTT	GRCh37
NC_000011.8:g.118461095_118461096insGTTTTTTT	NCBI36
NG_008093.1:g.5299_5300insGTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442944.7:c.33+109_33+110insGTTTTTTT	ENSP00000392041.3:n.33+109_33+110insGTTTTTTT
ENST00000534956.2:n.36+109_36+110insGTTTTTTT
ENST00000536813.6:c.-102+109_-102+110insGTTTTTTT	ENSP00000438726.2:n.-102+109_-102+110insGTTTTTTT
ENST00000546302.6:c.33+109_33+110insGTTTTTTT	ENSP00000445599.1:n.33+109_33+110insGTTTTTTT
ENST00000640813.1:c.-19+109_-19+110insGTTTTTTT	ENSP00000491061.1:n.-19+109_-19+110insGTTTTTTT
ENST00000648026.1:c.27+109_27+110insGTTTTTTT	ENSP00000498044.1:n.27+109_27+110insGTTTTTTT
ENST00000649868.1:c.33+109_33+110insGTTTTTTT	ENSP00000497548.1:n.33+109_33+110insGTTTTTTT
ENST00000652429.1:c.33+109_33+110insGTTTTTTT MANE Select	ENSP00000498786.1:n.33+109_33+110insGTTTTTTT
ENST00000278715.7:c.33+109_33+110insGTTTTTTT	ENSP00000278715.3:n.33+109_33+110insGTTTTTTT
ENST00000442944.6:c.-102+109_-102+110insGTTTTTTT	ENSP00000392041.2:n.-102+109_-102+110insGTTTTTTT
ENST00000535793.5:c.33+109_33+110insGTTTTTTT	ENSP00000439904.1:n.33+109_33+110insGTTTTTTT
ENST00000536185.5:n.201+109_201+110insGTTTTTTT
ENST00000536813.5:c.33+109_33+110insGTTTTTTT	ENSP00000438726.1:n.33+109_33+110insGTTTTTTT
ENST00000537841.5:c.-19+18_-19+19insGTTTTTTT	ENSP00000444730.1:n.-19+18_-19+19insGTTTTTTT
ENST00000542044.5:n.158+109_158+110insGTTTTTTT
ENST00000542729.5:c.-19+18_-19+19insGTTTTTTT	ENSP00000443058.1:n.-19+18_-19+19insGTTTTTTT
ENST00000542822.5:c.124+18_124+19insGTTTTTTT	ENSP00000444817.1:n.124+18_124+19insGTTTTTTT
ENST00000543090.5:c.33+109_33+110insGTTTTTTT	ENSP00000445429.1:n.33+109_33+110insGTTTTTTT
ENST00000543821.5:n.179+109_179+110insGTTTTTTT
ENST00000544387.5:c.33+109_33+110insGTTTTTTT	ENSP00000438424.1:n.33+109_33+110insGTTTTTTT
ENST00000545621.5:c.33+109_33+110insGTTTTTTT	ENSP00000444849.1:n.33+109_33+110insGTTTTTTT
ENST00000545901.5:n.186+109_186+110insGTTTTTTT
ENST00000546302.5:c.33+109_33+110insGTTTTTTT	ENSP00000445599.1:n.33+109_33+110insGTTTTTTT
NM_000190.3:c.33+109_33+110insGTTTTTTT	NP_000181.2:n.33+109_33+110insGTTTTTTT
NM_001258208.1:c.33+109_33+110insGTTTTTTT	NP_001245137.1:n.33+109_33+110insGTTTTTTT
NM_001258209.1:c.-19+18_-19+19insGTTTTTTT	NP_001245138.1:n.-19+18_-19+19insGTTTTTTT
XM_005271531.1:c.-19+18_-19+19insGTTTTTTT	XP_005271588.1:n.-19+18_-19+19insGTTTTTTT
XM_005271532.1:c.-19+42_-19+43insGTTTTTTT	XP_005271589.1:n.-19+42_-19+43insGTTTTTTT
XM_005271533.2:c.33+109_33+110insGTTTTTTT	XP_005271590.1:n.33+109_33+110insGTTTTTTT
NM_000190.4:c.33+109_33+110insGTTTTTTT MANE Select	NP_000181.2:n.33+109_33+110insGTTTTTTT
XM_005271533.3:c.33+109_33+110insGTTTTTTT	XP_005271590.1:n.33+109_33+110insGTTTTTTT
XM_024448460.1:c.33+109_33+110insGTTTTTTT	XP_024304228.1:n.33+109_33+110insGTTTTTTT
NM_001258208.2:c.33+109_33+110insGTTTTTTT	NP_001245137.1:n.33+109_33+110insGTTTTTTT
NM_001258209.2:c.-19+18_-19+19insGTTTTTTT	NP_001245138.1:n.-19+18_-19+19insGTTTTTTT