Canonical Allele Identifier: CA645593906

Gene: HMBS

Linked Data

• COSMIC: COSM5232431

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093159_119093160dup , CM000673.2:g.119093159_119093160dup	GRCh38
NC_000011.9:g.118963869_118963870dup , CM000673.1:g.118963869_118963870dup	GRCh37
NC_000011.8:g.118469079_118469080dup	NCBI36
NG_008093.1:g.13283_13284dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.797_798dup	ENSP00000509288.1:p.Asn267ValfsTer23
ENST00000691144.1:n.3177_3178dup
ENST00000691249.1:n.1786_1787dup
ENST00000442944.7:c.944_945dup	ENSP00000392041.3:p.Asn316ValfsTer23
ENST00000640813.1:c.*199_*200dup	ENSP00000491061.1:n.*199_*200dup
ENST00000648026.1:c.856_857dup	ENSP00000498044.1:n.856_857dup
ENST00000648374.1:c.911_912dup	ENSP00000497255.1:p.Asn305ValfsTer23
ENST00000650101.1:c.893_894dup	ENSP00000496970.1:p.Asn299ValfsTer23
ENST00000650307.1:n.1788_1789dup
ENST00000652429.1:c.962_963dup MANE Select	ENSP00000498786.1:p.Asn322ValfsTer23
ENST00000278715.7:c.962_963dup	ENSP00000278715.3:p.Asn322ValfsTer23
ENST00000392841.1:c.911_912dup	ENSP00000376584.1:p.Asn305ValfsTer23
ENST00000442944.6:c.911_912dup	ENSP00000392041.2:p.Asn305ValfsTer23
ENST00000537841.5:c.911_912dup	ENSP00000444730.1:p.Asn305ValfsTer23
ENST00000539045.1:n.461_462dup
ENST00000542044.5:n.1407_1408dup
ENST00000542729.5:c.791_792dup	ENSP00000443058.1:p.Asn265ValfsTer23
ENST00000543090.5:c.869_870dup	ENSP00000445429.1:p.Asn291ValfsTer23
ENST00000543543.5:n.1437_1438dup
ENST00000544182.1:n.1411_1412dup
ENST00000544387.5:c.842_843dup	ENSP00000438424.1:p.Asn282ValfsTer23
ENST00000546226.5:n.1724_1725dup
NM_000190.3:c.962_963dup	NP_000181.2:p.Asn322ValfsTer23
NM_001024382.1:c.911_912dup	NP_001019553.1:p.Asn305ValfsTer23
NM_001258208.1:c.842_843dup	NP_001245137.1:p.Asn282ValfsTer23
NM_001258209.1:c.791_792dup	NP_001245138.1:p.Asn265ValfsTer23
XM_005271531.1:c.911_912dup	XP_005271588.1:p.Asn305ValfsTer23
XM_005271532.1:c.911_912dup	XP_005271589.1:p.Asn305ValfsTer23
XM_005271533.2:c.908_909dup	XP_005271590.1:p.Asn304ValfsTer23
XM_011542796.1:c.797_798dup	XP_011541098.1:p.Asn267ValfsTer23
NM_000190.4:c.962_963dup MANE Select	NP_000181.2:p.Asn322ValfsTer23
NM_001024382.2:c.911_912dup	NP_001019553.1:p.Asn305ValfsTer23
XM_005271533.3:c.908_909dup	XP_005271590.1:p.Asn304ValfsTer23
XM_017017629.1:c.911_912dup	XP_016873118.1:p.Asn305ValfsTer23
XM_024448460.1:c.788_789dup	XP_024304228.1:p.Asn264ValfsTer23
NM_001258208.2:c.842_843dup	NP_001245137.1:p.Asn282ValfsTer23
NM_001258209.2:c.791_792dup	NP_001245138.1:p.Asn265ValfsTer23