Canonical Allele Identifier: CA2003780692

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119085199_119085202delinsTTTG , CM000673.2:g.119085199_119085202delinsTTTG	GRCh38
NC_000011.9:g.118955909_118955912delinsTTTG , CM000673.1:g.118955909_118955912delinsTTTG	GRCh37
NC_000011.8:g.118461119_118461122delinsTTTG	NCBI36
NG_008093.1:g.5323_5326delinsTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442944.7:c.33+133_33+136delinsTTTG	ENSP00000392041.3:n.33+133_33+136delinsTTTG
ENST00000534956.2:n.36+133_36+136delinsTTTG
ENST00000536813.6:c.-102+133_-102+136delinsTTTG	ENSP00000438726.2:n.-102+133_-102+136delinsTTTG
ENST00000546302.6:c.33+133_33+136delinsTTTG	ENSP00000445599.1:n.33+133_33+136delinsTTTG
ENST00000640813.1:c.-19+133_-19+136delinsTTTG	ENSP00000491061.1:n.-19+133_-19+136delinsTTTG
ENST00000648026.1:c.27+133_27+136delinsTTTG	ENSP00000498044.1:n.27+133_27+136delinsTTTG
ENST00000649868.1:c.33+133_33+136delinsTTTG	ENSP00000497548.1:n.33+133_33+136delinsTTTG
ENST00000652429.1:c.33+133_33+136delinsTTTG MANE Select	ENSP00000498786.1:n.33+133_33+136delinsTTTG
ENST00000278715.7:c.33+133_33+136delinsTTTG	ENSP00000278715.3:n.33+133_33+136delinsTTTG
ENST00000442944.6:c.-102+133_-102+136delinsTTTG	ENSP00000392041.2:n.-102+133_-102+136delinsTTTG
ENST00000535793.5:c.33+133_33+136delinsTTTG	ENSP00000439904.1:n.33+133_33+136delinsTTTG
ENST00000536185.5:n.201+133_201+136delinsTTTG
ENST00000536813.5:c.33+133_33+136delinsTTTG	ENSP00000438726.1:n.33+133_33+136delinsTTTG
ENST00000537841.5:c.-19+42_-19+45delinsTTTG	ENSP00000444730.1:n.-19+42_-19+45delinsTTTG
ENST00000542044.5:n.158+133_158+136delinsTTTG
ENST00000542729.5:c.-19+42_-19+45delinsTTTG	ENSP00000443058.1:n.-19+42_-19+45delinsTTTG
ENST00000542822.5:c.124+42_124+45delinsTTTG	ENSP00000444817.1:n.124+42_124+45delinsTTTG
ENST00000543090.5:c.33+133_33+136delinsTTTG	ENSP00000445429.1:n.33+133_33+136delinsTTTG
ENST00000543821.5:n.179+133_179+136delinsTTTG
ENST00000544387.5:c.33+133_33+136delinsTTTG	ENSP00000438424.1:n.33+133_33+136delinsTTTG
ENST00000545621.5:c.33+133_33+136delinsTTTG	ENSP00000444849.1:n.33+133_33+136delinsTTTG
ENST00000545901.5:n.186+133_186+136delinsTTTG
ENST00000546302.5:c.33+133_33+136delinsTTTG	ENSP00000445599.1:n.33+133_33+136delinsTTTG
NM_000190.3:c.33+133_33+136delinsTTTG	NP_000181.2:n.33+133_33+136delinsTTTG
NM_001258208.1:c.33+133_33+136delinsTTTG	NP_001245137.1:n.33+133_33+136delinsTTTG
NM_001258209.1:c.-19+42_-19+45delinsTTTG	NP_001245138.1:n.-19+42_-19+45delinsTTTG
XM_005271531.1:c.-19+42_-19+45delinsTTTG	XP_005271588.1:n.-19+42_-19+45delinsTTTG
XM_005271532.1:c.-19+66_-19+69delinsTTTG	XP_005271589.1:n.-19+66_-19+69delinsTTTG
XM_005271533.2:c.33+133_33+136delinsTTTG	XP_005271590.1:n.33+133_33+136delinsTTTG
NM_000190.4:c.33+133_33+136delinsTTTG MANE Select	NP_000181.2:n.33+133_33+136delinsTTTG
XM_005271533.3:c.33+133_33+136delinsTTTG	XP_005271590.1:n.33+133_33+136delinsTTTG
XM_024448460.1:c.33+133_33+136delinsTTTG	XP_024304228.1:n.33+133_33+136delinsTTTG
NM_001258208.2:c.33+133_33+136delinsTTTG	NP_001245137.1:n.33+133_33+136delinsTTTG
NM_001258209.2:c.-19+42_-19+45delinsTTTG	NP_001245138.1:n.-19+42_-19+45delinsTTTG