Canonical Allele Identifier: CA2695215829

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092431_119092432dup , CM000673.2:g.119092431_119092432dup	GRCh38
NC_000011.9:g.118963141_118963142dup , CM000673.1:g.118963141_118963142dup	GRCh37
NC_000011.8:g.118468351_118468352dup	NCBI36
NG_008093.1:g.12555_12556dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.514_515dup	ENSP00000509288.1:p.Asp173ArgfsTer28
ENST00000691144.1:n.2660_2661dup
ENST00000691249.1:n.1503_1504dup
ENST00000442944.7:c.661_662dup	ENSP00000392041.3:p.Asp222ArgfsTer28
ENST00000536813.6:c.628_629dup	ENSP00000438726.2:p.Asp211ArgfsTer?
ENST00000640813.1:c.489_490dup	ENSP00000491061.1:p.Arg164LysfsTer24
ENST00000648026.1:c.573_574dup	ENSP00000498044.1:p.Arg192LysfsTer24
ENST00000648374.1:c.628_629dup	ENSP00000497255.1:p.Asp211ArgfsTer28
ENST00000649823.1:n.1136_1137dup
ENST00000650101.1:c.610_611dup	ENSP00000496970.1:p.Asp205ArgfsTer28
ENST00000650307.1:n.1505_1506dup
ENST00000652429.1:c.679_680dup MANE Select	ENSP00000498786.1:p.Asp228ArgfsTer28
ENST00000278715.7:c.679_680dup	ENSP00000278715.3:p.Asp228ArgfsTer28
ENST00000392841.1:c.628_629dup	ENSP00000376584.1:p.Asp211ArgfsTer28
ENST00000442944.6:c.628_629dup	ENSP00000392041.2:p.Asp211ArgfsTer28
ENST00000537841.5:c.628_629dup	ENSP00000444730.1:p.Asp211ArgfsTer28
ENST00000542044.5:n.1124_1125dup
ENST00000542729.5:c.600+268_600+269dup	ENSP00000443058.1:n.600+268_600+269dup
ENST00000543090.5:c.586_587dup	ENSP00000445429.1:p.Asp197ArgfsTer28
ENST00000543543.5:n.1154_1155dup
ENST00000544182.1:n.894_895dup
ENST00000544387.5:c.651+268_651+269dup	ENSP00000438424.1:n.651+268_651+269dup
ENST00000545621.5:c.*814_*815dup	ENSP00000444849.1:n.*814_*815dup
ENST00000546226.5:n.1207_1208dup
NM_000190.3:c.679_680dup	NP_000181.2:p.Asp228ArgfsTer28
NM_001024382.1:c.628_629dup	NP_001019553.1:p.Asp211ArgfsTer28
NM_001258208.1:c.651+268_651+269dup	NP_001245137.1:n.651+268_651+269dup
NM_001258209.1:c.600+268_600+269dup	NP_001245138.1:n.600+268_600+269dup
XM_005271531.1:c.628_629dup	XP_005271588.1:p.Asp211ArgfsTer28
XM_005271532.1:c.628_629dup	XP_005271589.1:p.Asp211ArgfsTer28
XM_005271533.2:c.625_626dup	XP_005271590.1:p.Asp210ArgfsTer28
XM_011542796.1:c.514_515dup	XP_011541098.1:p.Asp173ArgfsTer28
NM_000190.4:c.679_680dup MANE Select	NP_000181.2:p.Asp228ArgfsTer28
NM_001024382.2:c.628_629dup	NP_001019553.1:p.Asp211ArgfsTer28
XM_005271533.3:c.625_626dup	XP_005271590.1:p.Asp210ArgfsTer28
XM_017017629.1:c.628_629dup	XP_016873118.1:p.Asp211ArgfsTer28
XM_024448460.1:c.597+268_597+269dup	XP_024304228.1:n.597+268_597+269dup
NM_001258208.2:c.651+268_651+269dup	NP_001245137.1:n.651+268_651+269dup
NM_001258209.2:c.600+268_600+269dup	NP_001245138.1:n.600+268_600+269dup