Canonical Allele Identifier: CA2695215830

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092434_119092442del , CM000673.2:g.119092434_119092442del	GRCh38
NC_000011.9:g.118963144_118963152del , CM000673.1:g.118963144_118963152del	GRCh37
NC_000011.8:g.118468354_118468362del	NCBI36
NG_008093.1:g.12558_12566del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.517_525del	ENSP00000509288.1:p.Asp173_Asp175del
ENST00000691144.1:n.2663_2671del
ENST00000691249.1:n.1506_1514del
ENST00000442944.7:c.664_672del	ENSP00000392041.3:p.Asp222_Asp224del
ENST00000536813.6:c.631_639del	ENSP00000438726.2:p.Asp211_Asp213del
ENST00000640813.1:c.492_500del	ENSP00000491061.1:p.Thr165_Thr167del
ENST00000648026.1:c.576_584del	ENSP00000498044.1:p.Thr193_Thr195del
ENST00000648374.1:c.631_639del	ENSP00000497255.1:p.Asp211_Asp213del
ENST00000649823.1:n.1139_1147del
ENST00000650101.1:c.613_621del	ENSP00000496970.1:p.Asp205_Asp207del
ENST00000650307.1:n.1508_1516del
ENST00000652429.1:c.682_690del MANE Select	ENSP00000498786.1:p.Asp228_Asp230del
ENST00000278715.7:c.682_690del	ENSP00000278715.3:p.Asp228_Asp230del
ENST00000392841.1:c.631_639del	ENSP00000376584.1:p.Asp211_Asp213del
ENST00000442944.6:c.631_639del	ENSP00000392041.2:p.Asp211_Asp213del
ENST00000537841.5:c.631_639del	ENSP00000444730.1:p.Asp211_Asp213del
ENST00000542044.5:n.1127_1135del
ENST00000542729.5:c.600+271_600+279del	ENSP00000443058.1:n.600+271_600+279del
ENST00000543090.5:c.589_597del	ENSP00000445429.1:p.Asp197_Asp199del
ENST00000543543.5:n.1157_1165del
ENST00000544182.1:n.897_905del
ENST00000544387.5:c.651+271_651+279del	ENSP00000438424.1:n.651+271_651+279del
ENST00000545621.5:c.*817_*825del	ENSP00000444849.1:n.*817_*825del
ENST00000546226.5:n.1210_1218del
NM_000190.3:c.682_690del	NP_000181.2:p.Asp228_Asp230del
NM_001024382.1:c.631_639del	NP_001019553.1:p.Asp211_Asp213del
NM_001258208.1:c.651+271_651+279del	NP_001245137.1:n.651+271_651+279del
NM_001258209.1:c.600+271_600+279del	NP_001245138.1:n.600+271_600+279del
XM_005271531.1:c.631_639del	XP_005271588.1:p.Asp211_Asp213del
XM_005271532.1:c.631_639del	XP_005271589.1:p.Asp211_Asp213del
XM_005271533.2:c.628_636del	XP_005271590.1:p.Asp210_Asp212del
XM_011542796.1:c.517_525del	XP_011541098.1:p.Asp173_Asp175del
NM_000190.4:c.682_690del MANE Select	NP_000181.2:p.Asp228_Asp230del
NM_001024382.2:c.631_639del	NP_001019553.1:p.Asp211_Asp213del
XM_005271533.3:c.628_636del	XP_005271590.1:p.Asp210_Asp212del
XM_017017629.1:c.631_639del	XP_016873118.1:p.Asp211_Asp213del
XM_024448460.1:c.597+271_597+279del	XP_024304228.1:n.597+271_597+279del
NM_001258208.2:c.651+271_651+279del	NP_001245137.1:n.651+271_651+279del
NM_001258209.2:c.600+271_600+279del	NP_001245138.1:n.600+271_600+279del