Canonical Allele Identifier: CA2616352758

Gene: HMBS

Linked Data

• gnomAD v4: 11-119085172-C-CTGTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119085173_119085174insGTTTTTT , CM000673.2:g.119085173_119085174insGTTTTTT	GRCh38
NC_000011.9:g.118955883_118955884insGTTTTTT , CM000673.1:g.118955883_118955884insGTTTTTT	GRCh37
NC_000011.8:g.118461093_118461094insGTTTTTT	NCBI36
NG_008093.1:g.5297_5298insGTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442944.7:c.33+107_33+108insGTTTTTT	ENSP00000392041.3:n.33+107_33+108insGTTTTTT
ENST00000534956.2:n.36+107_36+108insGTTTTTT
ENST00000536813.6:c.-102+107_-102+108insGTTTTTT	ENSP00000438726.2:n.-102+107_-102+108insGTTTTTT
ENST00000546302.6:c.33+107_33+108insGTTTTTT	ENSP00000445599.1:n.33+107_33+108insGTTTTTT
ENST00000640813.1:c.-19+107_-19+108insGTTTTTT	ENSP00000491061.1:n.-19+107_-19+108insGTTTTTT
ENST00000648026.1:c.27+107_27+108insGTTTTTT	ENSP00000498044.1:n.27+107_27+108insGTTTTTT
ENST00000649868.1:c.33+107_33+108insGTTTTTT	ENSP00000497548.1:n.33+107_33+108insGTTTTTT
ENST00000652429.1:c.33+107_33+108insGTTTTTT MANE Select	ENSP00000498786.1:n.33+107_33+108insGTTTTTT
ENST00000278715.7:c.33+107_33+108insGTTTTTT	ENSP00000278715.3:n.33+107_33+108insGTTTTTT
ENST00000442944.6:c.-102+107_-102+108insGTTTTTT	ENSP00000392041.2:n.-102+107_-102+108insGTTTTTT
ENST00000535793.5:c.33+107_33+108insGTTTTTT	ENSP00000439904.1:n.33+107_33+108insGTTTTTT
ENST00000536185.5:n.201+107_201+108insGTTTTTT
ENST00000536813.5:c.33+107_33+108insGTTTTTT	ENSP00000438726.1:n.33+107_33+108insGTTTTTT
ENST00000537841.5:c.-19+16_-19+17insGTTTTTT	ENSP00000444730.1:n.-19+16_-19+17insGTTTTTT
ENST00000542044.5:n.158+107_158+108insGTTTTTT
ENST00000542729.5:c.-19+16_-19+17insGTTTTTT	ENSP00000443058.1:n.-19+16_-19+17insGTTTTTT
ENST00000542822.5:c.124+16_124+17insGTTTTTT	ENSP00000444817.1:n.124+16_124+17insGTTTTTT
ENST00000543090.5:c.33+107_33+108insGTTTTTT	ENSP00000445429.1:n.33+107_33+108insGTTTTTT
ENST00000543821.5:n.179+107_179+108insGTTTTTT
ENST00000544387.5:c.33+107_33+108insGTTTTTT	ENSP00000438424.1:n.33+107_33+108insGTTTTTT
ENST00000545621.5:c.33+107_33+108insGTTTTTT	ENSP00000444849.1:n.33+107_33+108insGTTTTTT
ENST00000545901.5:n.186+107_186+108insGTTTTTT
ENST00000546302.5:c.33+107_33+108insGTTTTTT	ENSP00000445599.1:n.33+107_33+108insGTTTTTT
NM_000190.3:c.33+107_33+108insGTTTTTT	NP_000181.2:n.33+107_33+108insGTTTTTT
NM_001258208.1:c.33+107_33+108insGTTTTTT	NP_001245137.1:n.33+107_33+108insGTTTTTT
NM_001258209.1:c.-19+16_-19+17insGTTTTTT	NP_001245138.1:n.-19+16_-19+17insGTTTTTT
XM_005271531.1:c.-19+16_-19+17insGTTTTTT	XP_005271588.1:n.-19+16_-19+17insGTTTTTT
XM_005271532.1:c.-19+40_-19+41insGTTTTTT	XP_005271589.1:n.-19+40_-19+41insGTTTTTT
XM_005271533.2:c.33+107_33+108insGTTTTTT	XP_005271590.1:n.33+107_33+108insGTTTTTT
NM_000190.4:c.33+107_33+108insGTTTTTT MANE Select	NP_000181.2:n.33+107_33+108insGTTTTTT
XM_005271533.3:c.33+107_33+108insGTTTTTT	XP_005271590.1:n.33+107_33+108insGTTTTTT
XM_024448460.1:c.33+107_33+108insGTTTTTT	XP_024304228.1:n.33+107_33+108insGTTTTTT
NM_001258208.2:c.33+107_33+108insGTTTTTT	NP_001245137.1:n.33+107_33+108insGTTTTTT
NM_001258209.2:c.-19+16_-19+17insGTTTTTT	NP_001245138.1:n.-19+16_-19+17insGTTTTTT