Canonical Allele Identifier: CA2003791485
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092416_119092446delinsGTGGAAGTGCGAGCCAAGGACCAGGACATCT , CM000673.2:g.119092416_119092446delinsGTGGAAGTGCGAGCCAAGGACCAGGACATCT GRCh38
NC_000011.9:g.118963126_118963156delinsGTGGAAGTGCGAGCCAAGGACCAGGACATCT , CM000673.1:g.118963126_118963156delinsGTGGAAGTGCGAGCCAAGGACCAGGACATCT GRCh37
NC_000011.8:g.118468336_118468366delinsGTGGAAGTGCGAGCCAAGGACCAGGACATCT NCBI36
NG_008093.1:g.12540_12570delinsGTGGAAGTGCGAGCCAAGGACCAGGACATCT

Transcript Alleles

HGVS Amino-acid change
ENST00000686218.1:c.499_529delinsGTGGAAGTGCGAGCCAAGGACCAGGACATCT ENSP00000509288.1:p.Val167=
ENST00000691144.1:n.2645_2675delinsGTGGAAGTGCGAGCCAAGGACCAGGACATCT
ENST00000691249.1:n.1488_1518delinsGTGGAAGTGCGAGCCAAGGACCAGGACATCT
ENST00000442944.7:c.646_676delinsGTGGAAGTGCGAGCCAAGGACCAGGACATCT ENSP00000392041.3:p.Val216=
ENST00000536813.6:c.613_643delinsGTGGAAGTGCGAGCCAAGGACCAGGACATCT ENSP00000438726.2:p.Val205=
ENST00000640813.1:c.474_504delinsGTGGAAGTGCGAGCCAAGGACCAGGACATCT ENSP00000491061.1:p.Ala158=
ENST00000648026.1:c.558_588delinsGTGGAAGTGCGAGCCAAGGACCAGGACATCT ENSP00000498044.1:p.Ala186=
ENST00000648374.1:c.613_643delinsGTGGAAGTGCGAGCCAAGGACCAGGACATCT ENSP00000497255.1:p.Val205=
ENST00000649823.1:n.1121_1151delinsGTGGAAGTGCGAGCCAAGGACCAGGACATCT
ENST00000650101.1:c.595_625delinsGTGGAAGTGCGAGCCAAGGACCAGGACATCT ENSP00000496970.1:p.Val199=
ENST00000650307.1:n.1490_1520delinsGTGGAAGTGCGAGCCAAGGACCAGGACATCT
ENST00000652429.1:c.664_694delinsGTGGAAGTGCGAGCCAAGGACCAGGACATCT MANE Select ENSP00000498786.1:p.Val222=
ENST00000278715.7:c.664_694delinsGTGGAAGTGCGAGCCAAGGACCAGGACATCT ENSP00000278715.3:p.Val222=
ENST00000392841.1:c.613_643delinsGTGGAAGTGCGAGCCAAGGACCAGGACATCT ENSP00000376584.1:p.Val205=
ENST00000442944.6:c.613_643delinsGTGGAAGTGCGAGCCAAGGACCAGGACATCT ENSP00000392041.2:p.Val205=
ENST00000537841.5:c.613_643delinsGTGGAAGTGCGAGCCAAGGACCAGGACATCT ENSP00000444730.1:p.Val205=
ENST00000542044.5:n.1109_1139delinsGTGGAAGTGCGAGCCAAGGACCAGGACATCT
ENST00000542729.5:c.600+253_600+283delinsGTGGAAGTGCGAGCCAAGGACCAGGACATCT ENSP00000443058.1:n.600+253_600+283delins...
ENST00000543090.5:c.571_601delinsGTGGAAGTGCGAGCCAAGGACCAGGACATCT ENSP00000445429.1:p.Val191=
ENST00000543543.5:n.1139_1169delinsGTGGAAGTGCGAGCCAAGGACCAGGACATCT
ENST00000544182.1:n.879_909delinsGTGGAAGTGCGAGCCAAGGACCAGGACATCT
ENST00000544387.5:c.651+253_651+283delinsGTGGAAGTGCGAGCCAAGGACCAGGACATCT ENSP00000438424.1:n.651+253_651+283delins...
ENST00000545621.5:c.*799_*829delinsGTGGAAGTGCGAGCCAAGGACCAGGACATCT ENSP00000444849.1:n.*799_*829delinsGTGGAA...
ENST00000546226.5:n.1192_1222delinsGTGGAAGTGCGAGCCAAGGACCAGGACATCT
NM_000190.3:c.664_694delinsGTGGAAGTGCGAGCCAAGGACCAGGACATCT NP_000181.2:p.Val222=
NM_001024382.1:c.613_643delinsGTGGAAGTGCGAGCCAAGGACCAGGACATCT NP_001019553.1:p.Val205=
NM_001258208.1:c.651+253_651+283delinsGTGGAAGTGCGAGCCAAGGACCAGGACATCT NP_001245137.1:n.651+253_651+283delinsGTG...
NM_001258209.1:c.600+253_600+283delinsGTGGAAGTGCGAGCCAAGGACCAGGACATCT NP_001245138.1:n.600+253_600+283delinsGTG...
XM_005271531.1:c.613_643delinsGTGGAAGTGCGAGCCAAGGACCAGGACATCT XP_005271588.1:p.Val205=
XM_005271532.1:c.613_643delinsGTGGAAGTGCGAGCCAAGGACCAGGACATCT XP_005271589.1:p.Val205=
XM_005271533.2:c.610_640delinsGTGGAAGTGCGAGCCAAGGACCAGGACATCT XP_005271590.1:p.Val204=
XM_011542796.1:c.499_529delinsGTGGAAGTGCGAGCCAAGGACCAGGACATCT XP_011541098.1:p.Val167=
NM_000190.4:c.664_694delinsGTGGAAGTGCGAGCCAAGGACCAGGACATCT MANE Select NP_000181.2:p.Val222=
NM_001024382.2:c.613_643delinsGTGGAAGTGCGAGCCAAGGACCAGGACATCT NP_001019553.1:p.Val205=
XM_005271533.3:c.610_640delinsGTGGAAGTGCGAGCCAAGGACCAGGACATCT XP_005271590.1:p.Val204=
XM_017017629.1:c.613_643delinsGTGGAAGTGCGAGCCAAGGACCAGGACATCT XP_016873118.1:p.Val205=
XM_024448460.1:c.597+253_597+283delinsGTGGAAGTGCGAGCCAAGGACCAGGACATCT XP_024304228.1:n.597+253_597+283delinsGTG...
NM_001258208.2:c.651+253_651+283delinsGTGGAAGTGCGAGCCAAGGACCAGGACATCT NP_001245137.1:n.651+253_651+283delinsGTG...
NM_001258209.2:c.600+253_600+283delinsGTGGAAGTGCGAGCCAAGGACCAGGACATCT NP_001245138.1:n.600+253_600+283delinsGTG...