Canonical Allele Identifier: CA2840438296

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119088374_119088375insGTTC , CM000673.2:g.119088374_119088375insGTTC	GRCh38
NC_000011.9:g.118959084_118959085insGTTC , CM000673.1:g.118959084_118959085insGTTC	GRCh37
NC_000011.8:g.118464294_118464295insGTTC	NCBI36
NG_008093.1:g.8498_8499insGTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.-78-261_-78-260insGTTC	ENSP00000509288.1:n.-78-261_-78-260insGTTC
ENST00000691144.1:n.1109_1110insGTTC
ENST00000691249.1:n.672-261_672-260insGTTC
ENST00000442944.7:c.87+66_87+67insGTTC	ENSP00000392041.3:n.87+66_87+67insGTTC
ENST00000534956.2:n.37-261_37-260insGTTC
ENST00000536813.6:c.36+66_36+67insGTTC	ENSP00000438726.2:n.36+66_36+67insGTTC
ENST00000546302.6:c.87+66_87+67insGTTC	ENSP00000445599.1:n.87+66_87+67insGTTC
ENST00000640813.1:c.36+66_36+67insGTTC	ENSP00000491061.1:n.36+66_36+67insGTTC
ENST00000648026.1:c.81+66_81+67insGTTC	ENSP00000498044.1:n.81+66_81+67insGTTC
ENST00000648374.1:c.36+66_36+67insGTTC	ENSP00000497255.1:n.36+66_36+67insGTTC
ENST00000648488.1:c.36+66_36+67insGTTC	ENSP00000498079.1:n.36+66_36+67insGTTC
ENST00000649823.1:n.304+66_304+67insGTTC
ENST00000649868.1:c.34-726_34-725insGTTC	ENSP00000497548.1:n.34-726_34-725insGTTC
ENST00000650101.1:c.36+66_36+67insGTTC	ENSP00000496970.1:n.36+66_36+67insGTTC
ENST00000650307.1:n.540-261_540-260insGTTC
ENST00000652429.1:c.87+66_87+67insGTTC MANE Select	ENSP00000498786.1:n.87+66_87+67insGTTC
ENST00000278715.7:c.87+66_87+67insGTTC	ENSP00000278715.3:n.87+66_87+67insGTTC
ENST00000392841.1:c.36+66_36+67insGTTC	ENSP00000376584.1:n.36+66_36+67insGTTC
ENST00000442944.6:c.36+66_36+67insGTTC	ENSP00000392041.2:n.36+66_36+67insGTTC
ENST00000535253.5:c.36+66_36+67insGTTC	ENSP00000442079.1:n.36+66_36+67insGTTC
ENST00000535793.5:c.34-261_34-260insGTTC	ENSP00000439904.1:n.34-261_34-260insGTTC
ENST00000536185.5:n.255+66_255+67insGTTC
ENST00000536813.5:c.87+66_87+67insGTTC	ENSP00000438726.1:n.87+66_87+67insGTTC
ENST00000537841.5:c.36+66_36+67insGTTC	ENSP00000444730.1:n.36+66_36+67insGTTC
ENST00000539986.5:c.36+66_36+67insGTTC	ENSP00000440092.1:n.36+66_36+67insGTTC
ENST00000542044.5:n.159-261_159-260insGTTC
ENST00000542345.5:n.225+66_225+67insGTTC
ENST00000542729.5:c.36+66_36+67insGTTC	ENSP00000443058.1:n.36+66_36+67insGTTC
ENST00000542822.5:c.178+66_178+67insGTTC	ENSP00000444817.1:n.178+66_178+67insGTTC
ENST00000543090.5:c.34-261_34-260insGTTC	ENSP00000445429.1:n.34-261_34-260insGTTC
ENST00000543543.5:n.322+66_322+67insGTTC
ENST00000543821.5:n.233+66_233+67insGTTC
ENST00000544360.5:n.55+66_55+67insGTTC
ENST00000544387.5:c.87+66_87+67insGTTC	ENSP00000438424.1:n.87+66_87+67insGTTC
ENST00000545621.5:c.87+66_87+67insGTTC	ENSP00000444849.1:n.87+66_87+67insGTTC
ENST00000545901.5:n.240+66_240+67insGTTC
ENST00000546226.5:n.146+66_146+67insGTTC
ENST00000546302.5:c.87+66_87+67insGTTC	ENSP00000445599.1:n.87+66_87+67insGTTC
NM_000190.3:c.87+66_87+67insGTTC	NP_000181.2:n.87+66_87+67insGTTC
NM_001024382.1:c.36+66_36+67insGTTC	NP_001019553.1:n.36+66_36+67insGTTC
NM_001258208.1:c.87+66_87+67insGTTC	NP_001245137.1:n.87+66_87+67insGTTC
NM_001258209.1:c.36+66_36+67insGTTC	NP_001245138.1:n.36+66_36+67insGTTC
XM_005271531.1:c.36+66_36+67insGTTC	XP_005271588.1:n.36+66_36+67insGTTC
XM_005271532.1:c.36+66_36+67insGTTC	XP_005271589.1:n.36+66_36+67insGTTC
XM_005271533.2:c.34-261_34-260insGTTC	XP_005271590.1:n.34-261_34-260insGTTC
XM_011542796.1:c.-78-261_-78-260insGTTC	XP_011541098.1:n.-78-261_-78-260insGTTC
NM_000190.4:c.87+66_87+67insGTTC MANE Select	NP_000181.2:n.87+66_87+67insGTTC
NM_001024382.2:c.36+66_36+67insGTTC	NP_001019553.1:n.36+66_36+67insGTTC
XM_005271533.3:c.34-261_34-260insGTTC	XP_005271590.1:n.34-261_34-260insGTTC
XM_017017629.1:c.36+66_36+67insGTTC	XP_016873118.1:n.36+66_36+67insGTTC
XM_024448460.1:c.34-261_34-260insGTTC	XP_024304228.1:n.34-261_34-260insGTTC
NM_001258208.2:c.87+66_87+67insGTTC	NP_001245137.1:n.87+66_87+67insGTTC
NM_001258209.2:c.36+66_36+67insGTTC	NP_001245138.1:n.36+66_36+67insGTTC