Canonical Allele Identifier: CA2003780677
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119085188_119085219delinsTTTTTTTTTTTTTTGGTCCGAGTAGCTTTTAA , CM000673.2:g.119085188_119085219delinsTTTTTTTTTTTTTTGGTCCGAGTAGCTTTTAA GRCh38
NC_000011.9:g.118955898_118955929delinsTTTTTTTTTTTTTTGGTCCGAGTAGCTTTTAA , CM000673.1:g.118955898_118955929delinsTTTTTTTTTTTTTTGGTCCGAGTAGCTTTTAA GRCh37
NC_000011.8:g.118461108_118461139delinsTTTTTTTTTTTTTTGGTCCGAGTAGCTTTTAA NCBI36
NG_008093.1:g.5312_5343delinsTTTTTTTTTTTTTTGGTCCGAGTAGCTTTTAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000442944.7:c.33+122_33+153delinsTTTTTTTTTTTTTTGGTCCGAGTAGCTTTTAA ENSP00000392041.3:n.33+122_33+153delinsTTTTTTTTTTTTTTGGTCCGAG...
ENST00000534956.2:n.36+122_36+153delinsTTTTTTTTTTTTTTGGTCCGAGTAGCTTTTAA
ENST00000536813.6:c.-102+122_-102+153delinsTTTTTTTTTTTTTTGGTCCGAGTAGCTTTTAA ENSP00000438726.2:n.-102+122_-102+153delinsTTTTTTTTTTTTTTGGTC...
ENST00000546302.6:c.33+122_33+153delinsTTTTTTTTTTTTTTGGTCCGAGTAGCTTTTAA ENSP00000445599.1:n.33+122_33+153delinsTTTTTTTTTTTTTTGGTCCGAG...
ENST00000640813.1:c.-19+122_-19+153delinsTTTTTTTTTTTTTTGGTCCGAGTAGCTTTTAA ENSP00000491061.1:n.-19+122_-19+153delinsTTTTTTTTTTTTTTGGTCCG...
ENST00000648026.1:c.27+122_27+153delinsTTTTTTTTTTTTTTGGTCCGAGTAGCTTTTAA ENSP00000498044.1:n.27+122_27+153delinsTTTTTTTTTTTTTTGGTCCGAG...
ENST00000649868.1:c.33+122_33+153delinsTTTTTTTTTTTTTTGGTCCGAGTAGCTTTTAA ENSP00000497548.1:n.33+122_33+153delinsTTTTTTTTTTTTTTGGTCCGAG...
ENST00000652429.1:c.33+122_33+153delinsTTTTTTTTTTTTTTGGTCCGAGTAGCTTTTAA MANE Select ENSP00000498786.1:n.33+122_33+153delinsTTTTTTTTTTTTTTGGTCCGAG...
ENST00000278715.7:c.33+122_33+153delinsTTTTTTTTTTTTTTGGTCCGAGTAGCTTTTAA ENSP00000278715.3:n.33+122_33+153delinsTTTTTTTTTTTTTTGGTCCGAG...
ENST00000442944.6:c.-102+122_-102+153delinsTTTTTTTTTTTTTTGGTCCGAGTAGCTTTTAA ENSP00000392041.2:n.-102+122_-102+153delinsTTTTTTTTTTTTTTGGTC...
ENST00000535793.5:c.33+122_33+153delinsTTTTTTTTTTTTTTGGTCCGAGTAGCTTTTAA ENSP00000439904.1:n.33+122_33+153delinsTTTTTTTTTTTTTTGGTCCGAG...
ENST00000536185.5:n.201+122_201+153delinsTTTTTTTTTTTTTTGGTCCGAGTAGCTTTTAA
ENST00000536813.5:c.33+122_33+153delinsTTTTTTTTTTTTTTGGTCCGAGTAGCTTTTAA ENSP00000438726.1:n.33+122_33+153delinsTTTTTTTTTTTTTTGGTCCGAG...
ENST00000537841.5:c.-19+31_-19+62delinsTTTTTTTTTTTTTTGGTCCGAGTAGCTTTTAA ENSP00000444730.1:n.-19+31_-19+62delinsTTTTTTTTTTTTTTGGTCCGAG...
ENST00000542044.5:n.158+122_158+153delinsTTTTTTTTTTTTTTGGTCCGAGTAGCTTTTAA
ENST00000542729.5:c.-19+31_-19+62delinsTTTTTTTTTTTTTTGGTCCGAGTAGCTTTTAA ENSP00000443058.1:n.-19+31_-19+62delinsTTTTTTTTTTTTTTGGTCCGAG...
ENST00000542822.5:c.124+31_124+62delinsTTTTTTTTTTTTTTGGTCCGAGTAGCTTTTAA ENSP00000444817.1:n.124+31_124+62delinsTTTTTTTTTTTTTTGGTCCGAG...
ENST00000543090.5:c.33+122_33+153delinsTTTTTTTTTTTTTTGGTCCGAGTAGCTTTTAA ENSP00000445429.1:n.33+122_33+153delinsTTTTTTTTTTTTTTGGTCCGAG...
ENST00000543821.5:n.179+122_179+153delinsTTTTTTTTTTTTTTGGTCCGAGTAGCTTTTAA
ENST00000544387.5:c.33+122_33+153delinsTTTTTTTTTTTTTTGGTCCGAGTAGCTTTTAA ENSP00000438424.1:n.33+122_33+153delinsTTTTTTTTTTTTTTGGTCCGAG...
ENST00000545621.5:c.33+122_33+153delinsTTTTTTTTTTTTTTGGTCCGAGTAGCTTTTAA ENSP00000444849.1:n.33+122_33+153delinsTTTTTTTTTTTTTTGGTCCGAG...
ENST00000545901.5:n.186+122_186+153delinsTTTTTTTTTTTTTTGGTCCGAGTAGCTTTTAA
ENST00000546302.5:c.33+122_33+153delinsTTTTTTTTTTTTTTGGTCCGAGTAGCTTTTAA ENSP00000445599.1:n.33+122_33+153delinsTTTTTTTTTTTTTTGGTCCGAG...
NM_000190.3:c.33+122_33+153delinsTTTTTTTTTTTTTTGGTCCGAGTAGCTTTTAA NP_000181.2:n.33+122_33+153delinsTTTTTTTTTTTTTTGGTCCGAGTAGCTT...
NM_001258208.1:c.33+122_33+153delinsTTTTTTTTTTTTTTGGTCCGAGTAGCTTTTAA NP_001245137.1:n.33+122_33+153delinsTTTTTTTTTTTTTTGGTCCGAGTAG...
NM_001258209.1:c.-19+31_-19+62delinsTTTTTTTTTTTTTTGGTCCGAGTAGCTTTTAA NP_001245138.1:n.-19+31_-19+62delinsTTTTTTTTTTTTTTGGTCCGAGTAG...
XM_005271531.1:c.-19+31_-19+62delinsTTTTTTTTTTTTTTGGTCCGAGTAGCTTTTAA XP_005271588.1:n.-19+31_-19+62delinsTTTTTTTTTTTTTTGGTCCGAGTAG...
XM_005271532.1:c.-19+55_-19+86delinsTTTTTTTTTTTTTTGGTCCGAGTAGCTTTTAA XP_005271589.1:n.-19+55_-19+86delinsTTTTTTTTTTTTTTGGTCCGAGTAG...
XM_005271533.2:c.33+122_33+153delinsTTTTTTTTTTTTTTGGTCCGAGTAGCTTTTAA XP_005271590.1:n.33+122_33+153delinsTTTTTTTTTTTTTTGGTCCGAGTAG...
NM_000190.4:c.33+122_33+153delinsTTTTTTTTTTTTTTGGTCCGAGTAGCTTTTAA MANE Select NP_000181.2:n.33+122_33+153delinsTTTTTTTTTTTTTTGGTCCGAGTAGCTT...
XM_005271533.3:c.33+122_33+153delinsTTTTTTTTTTTTTTGGTCCGAGTAGCTTTTAA XP_005271590.1:n.33+122_33+153delinsTTTTTTTTTTTTTTGGTCCGAGTAG...
XM_024448460.1:c.33+122_33+153delinsTTTTTTTTTTTTTTGGTCCGAGTAGCTTTTAA XP_024304228.1:n.33+122_33+153delinsTTTTTTTTTTTTTTGGTCCGAGTAG...
NM_001258208.2:c.33+122_33+153delinsTTTTTTTTTTTTTTGGTCCGAGTAGCTTTTAA NP_001245137.1:n.33+122_33+153delinsTTTTTTTTTTTTTTGGTCCGAGTAG...
NM_001258209.2:c.-19+31_-19+62delinsTTTTTTTTTTTTTTGGTCCGAGTAGCTTTTAA NP_001245138.1:n.-19+31_-19+62delinsTTTTTTTTTTTTTTGGTCCGAGTAG...