Canonical Allele Identifier: CA2003780693

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119085200_119085202delinsTTG , CM000673.2:g.119085200_119085202delinsTTG	GRCh38
NC_000011.9:g.118955910_118955912delinsTTG , CM000673.1:g.118955910_118955912delinsTTG	GRCh37
NC_000011.8:g.118461120_118461122delinsTTG	NCBI36
NG_008093.1:g.5324_5326delinsTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442944.7:c.33+134_33+136delinsTTG	ENSP00000392041.3:n.33+134_33+136delinsTTG
ENST00000534956.2:n.36+134_36+136delinsTTG
ENST00000536813.6:c.-102+134_-102+136delinsTTG	ENSP00000438726.2:n.-102+134_-102+136delinsTTG
ENST00000546302.6:c.33+134_33+136delinsTTG	ENSP00000445599.1:n.33+134_33+136delinsTTG
ENST00000640813.1:c.-19+134_-19+136delinsTTG	ENSP00000491061.1:n.-19+134_-19+136delinsTTG
ENST00000648026.1:c.27+134_27+136delinsTTG	ENSP00000498044.1:n.27+134_27+136delinsTTG
ENST00000649868.1:c.33+134_33+136delinsTTG	ENSP00000497548.1:n.33+134_33+136delinsTTG
ENST00000652429.1:c.33+134_33+136delinsTTG MANE Select	ENSP00000498786.1:n.33+134_33+136delinsTTG
ENST00000278715.7:c.33+134_33+136delinsTTG	ENSP00000278715.3:n.33+134_33+136delinsTTG
ENST00000442944.6:c.-102+134_-102+136delinsTTG	ENSP00000392041.2:n.-102+134_-102+136delinsTTG
ENST00000535793.5:c.33+134_33+136delinsTTG	ENSP00000439904.1:n.33+134_33+136delinsTTG
ENST00000536185.5:n.201+134_201+136delinsTTG
ENST00000536813.5:c.33+134_33+136delinsTTG	ENSP00000438726.1:n.33+134_33+136delinsTTG
ENST00000537841.5:c.-19+43_-19+45delinsTTG	ENSP00000444730.1:n.-19+43_-19+45delinsTTG
ENST00000542044.5:n.158+134_158+136delinsTTG
ENST00000542729.5:c.-19+43_-19+45delinsTTG	ENSP00000443058.1:n.-19+43_-19+45delinsTTG
ENST00000542822.5:c.124+43_124+45delinsTTG	ENSP00000444817.1:n.124+43_124+45delinsTTG
ENST00000543090.5:c.33+134_33+136delinsTTG	ENSP00000445429.1:n.33+134_33+136delinsTTG
ENST00000543821.5:n.179+134_179+136delinsTTG
ENST00000544387.5:c.33+134_33+136delinsTTG	ENSP00000438424.1:n.33+134_33+136delinsTTG
ENST00000545621.5:c.33+134_33+136delinsTTG	ENSP00000444849.1:n.33+134_33+136delinsTTG
ENST00000545901.5:n.186+134_186+136delinsTTG
ENST00000546302.5:c.33+134_33+136delinsTTG	ENSP00000445599.1:n.33+134_33+136delinsTTG
NM_000190.3:c.33+134_33+136delinsTTG	NP_000181.2:n.33+134_33+136delinsTTG
NM_001258208.1:c.33+134_33+136delinsTTG	NP_001245137.1:n.33+134_33+136delinsTTG
NM_001258209.1:c.-19+43_-19+45delinsTTG	NP_001245138.1:n.-19+43_-19+45delinsTTG
XM_005271531.1:c.-19+43_-19+45delinsTTG	XP_005271588.1:n.-19+43_-19+45delinsTTG
XM_005271532.1:c.-19+67_-19+69delinsTTG	XP_005271589.1:n.-19+67_-19+69delinsTTG
XM_005271533.2:c.33+134_33+136delinsTTG	XP_005271590.1:n.33+134_33+136delinsTTG
NM_000190.4:c.33+134_33+136delinsTTG MANE Select	NP_000181.2:n.33+134_33+136delinsTTG
XM_005271533.3:c.33+134_33+136delinsTTG	XP_005271590.1:n.33+134_33+136delinsTTG
XM_024448460.1:c.33+134_33+136delinsTTG	XP_024304228.1:n.33+134_33+136delinsTTG
NM_001258208.2:c.33+134_33+136delinsTTG	NP_001245137.1:n.33+134_33+136delinsTTG
NM_001258209.2:c.-19+43_-19+45delinsTTG	NP_001245138.1:n.-19+43_-19+45delinsTTG