Canonical Allele Identifier: CA2695215720

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092959_119092969del , CM000673.2:g.119092959_119092969del	GRCh38
NC_000011.9:g.118963669_118963679del , CM000673.1:g.118963669_118963679del	GRCh37
NC_000011.8:g.118468879_118468889del	NCBI36
NG_008093.1:g.13083_13093del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.685_695del	ENSP00000509288.1:p.Ser229LeufsTer3
ENST00000691144.1:n.3065_3075del
ENST00000691249.1:n.1674_1684del
ENST00000442944.7:c.832_842del	ENSP00000392041.3:p.Ser278LeufsTer3
ENST00000640813.1:c.*87_*97del	ENSP00000491061.1:n.*87_*97del
ENST00000648026.1:c.744_754del	ENSP00000498044.1:n.744_754del
ENST00000648374.1:c.799_809del	ENSP00000497255.1:p.Ser267LeufsTer3
ENST00000650101.1:c.781_791del	ENSP00000496970.1:p.Ser261LeufsTer3
ENST00000650307.1:n.1676_1686del
ENST00000652429.1:c.850_860del MANE Select	ENSP00000498786.1:p.Ser284LeufsTer3
ENST00000278715.7:c.850_860del	ENSP00000278715.3:p.Ser284LeufsTer3
ENST00000392841.1:c.799_809del	ENSP00000376584.1:p.Ser267LeufsTer3
ENST00000442944.6:c.799_809del	ENSP00000392041.2:p.Ser267LeufsTer3
ENST00000537841.5:c.799_809del	ENSP00000444730.1:p.Ser267LeufsTer3
ENST00000539045.1:n.349_359del
ENST00000542044.5:n.1295_1305del
ENST00000542729.5:c.679_689del	ENSP00000443058.1:p.Ser227LeufsTer3
ENST00000543090.5:c.757_767del	ENSP00000445429.1:p.Ser253LeufsTer3
ENST00000543543.5:n.1325_1335del
ENST00000544182.1:n.1299_1309del
ENST00000544387.5:c.730_740del	ENSP00000438424.1:p.Ser244LeufsTer3
ENST00000546226.5:n.1612_1622del
NM_000190.3:c.850_860del	NP_000181.2:p.Ser284LeufsTer3
NM_001024382.1:c.799_809del	NP_001019553.1:p.Ser267LeufsTer3
NM_001258208.1:c.730_740del	NP_001245137.1:p.Ser244LeufsTer3
NM_001258209.1:c.679_689del	NP_001245138.1:p.Ser227LeufsTer3
XM_005271531.1:c.799_809del	XP_005271588.1:p.Ser267LeufsTer3
XM_005271532.1:c.799_809del	XP_005271589.1:p.Ser267LeufsTer3
XM_005271533.2:c.796_806del	XP_005271590.1:p.Ser266LeufsTer3
XM_011542796.1:c.685_695del	XP_011541098.1:p.Ser229LeufsTer3
NM_000190.4:c.850_860del MANE Select	NP_000181.2:p.Ser284LeufsTer3
NM_001024382.2:c.799_809del	NP_001019553.1:p.Ser267LeufsTer3
XM_005271533.3:c.796_806del	XP_005271590.1:p.Ser266LeufsTer3
XM_017017629.1:c.799_809del	XP_016873118.1:p.Ser267LeufsTer3
XM_024448460.1:c.676_686del	XP_024304228.1:p.Ser226LeufsTer3
NM_001258208.2:c.730_740del	NP_001245137.1:p.Ser244LeufsTer3
NM_001258209.2:c.679_689del	NP_001245138.1:p.Ser227LeufsTer3