Canonical Allele Identifier: CA2695215728

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092971dup , CM000673.2:g.119092971dup	GRCh38
NC_000011.9:g.118963681dup , CM000673.1:g.118963681dup	GRCh37
NC_000011.8:g.118468891dup	NCBI36
NG_008093.1:g.13095dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.697dup	ENSP00000509288.1:p.Ser233PhefsTer3
ENST00000691144.1:n.3077dup
ENST00000691249.1:n.1686dup
ENST00000442944.7:c.844dup	ENSP00000392041.3:p.Ser282PhefsTer3
ENST00000640813.1:c.*99dup	ENSP00000491061.1:n.*99dup
ENST00000648026.1:c.756dup	ENSP00000498044.1:n.756dup
ENST00000648374.1:c.811dup	ENSP00000497255.1:p.Ser271PhefsTer3
ENST00000650101.1:c.793dup	ENSP00000496970.1:p.Ser265PhefsTer3
ENST00000650307.1:n.1688dup
ENST00000652429.1:c.862dup MANE Select	ENSP00000498786.1:p.Ser288PhefsTer3
ENST00000278715.7:c.862dup	ENSP00000278715.3:p.Ser288PhefsTer3
ENST00000392841.1:c.811dup	ENSP00000376584.1:p.Ser271PhefsTer3
ENST00000442944.6:c.811dup	ENSP00000392041.2:p.Ser271PhefsTer3
ENST00000537841.5:c.811dup	ENSP00000444730.1:p.Ser271PhefsTer3
ENST00000539045.1:n.361dup
ENST00000542044.5:n.1307dup
ENST00000542729.5:c.691dup	ENSP00000443058.1:p.Ser231PhefsTer3
ENST00000543090.5:c.769dup	ENSP00000445429.1:p.Ser257PhefsTer3
ENST00000543543.5:n.1337dup
ENST00000544182.1:n.1311dup
ENST00000544387.5:c.742dup	ENSP00000438424.1:p.Ser248PhefsTer3
ENST00000546226.5:n.1624dup
NM_000190.3:c.862dup	NP_000181.2:p.Ser288PhefsTer3
NM_001024382.1:c.811dup	NP_001019553.1:p.Ser271PhefsTer3
NM_001258208.1:c.742dup	NP_001245137.1:p.Ser248PhefsTer3
NM_001258209.1:c.691dup	NP_001245138.1:p.Ser231PhefsTer3
XM_005271531.1:c.811dup	XP_005271588.1:p.Ser271PhefsTer3
XM_005271532.1:c.811dup	XP_005271589.1:p.Ser271PhefsTer3
XM_005271533.2:c.808dup	XP_005271590.1:p.Ser270PhefsTer3
XM_011542796.1:c.697dup	XP_011541098.1:p.Ser233PhefsTer3
NM_000190.4:c.862dup MANE Select	NP_000181.2:p.Ser288PhefsTer3
NM_001024382.2:c.811dup	NP_001019553.1:p.Ser271PhefsTer3
XM_005271533.3:c.808dup	XP_005271590.1:p.Ser270PhefsTer3
XM_017017629.1:c.811dup	XP_016873118.1:p.Ser271PhefsTer3
XM_024448460.1:c.688dup	XP_024304228.1:p.Ser230PhefsTer3
NM_001258208.2:c.742dup	NP_001245137.1:p.Ser248PhefsTer3
NM_001258209.2:c.691dup	NP_001245138.1:p.Ser231PhefsTer3