Canonical Allele Identifier: CA942777696
Gene: HMBS HGNC NCBI

Linked Data

dbSNP Id: rs1565750956

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119085171_119085172insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000673.2:g.119085171_119085172insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GRCh38
NC_000011.9:g.118955881_118955882insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000673.1:g.118955881_118955882insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GRCh37
NC_000011.8:g.118461091_118461092insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NCBI36
NG_008093.1:g.5295_5296insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000442944.7:c.33+105_33+106insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000392041.3:n.33+105_33+106insTTTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000534956.2:n.36+105_36+106insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000536813.6:c.-102+105_-102+106insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000438726.2:n.-102+105_-102+106insTTTTTTTTTTTTTTTTTTTTT...
ENST00000546302.6:c.33+105_33+106insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000445599.1:n.33+105_33+106insTTTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000640813.1:c.-19+105_-19+106insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000491061.1:n.-19+105_-19+106insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000648026.1:c.27+105_27+106insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000498044.1:n.27+105_27+106insTTTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000649868.1:c.33+105_33+106insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000497548.1:n.33+105_33+106insTTTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000652429.1:c.33+105_33+106insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select ENSP00000498786.1:n.33+105_33+106insTTTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000278715.7:c.33+105_33+106insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000278715.3:n.33+105_33+106insTTTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000442944.6:c.-102+105_-102+106insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000392041.2:n.-102+105_-102+106insTTTTTTTTTTTTTTTTTTTTT...
ENST00000535793.5:c.33+105_33+106insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000439904.1:n.33+105_33+106insTTTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000536185.5:n.201+105_201+106insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000536813.5:c.33+105_33+106insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000438726.1:n.33+105_33+106insTTTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000537841.5:c.-19+14_-19+15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000444730.1:n.-19+14_-19+15insTTTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000542044.5:n.158+105_158+106insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000542729.5:c.-19+14_-19+15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000443058.1:n.-19+14_-19+15insTTTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000542822.5:c.124+14_124+15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000444817.1:n.124+14_124+15insTTTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000543090.5:c.33+105_33+106insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000445429.1:n.33+105_33+106insTTTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000543821.5:n.179+105_179+106insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000544387.5:c.33+105_33+106insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000438424.1:n.33+105_33+106insTTTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000545621.5:c.33+105_33+106insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000444849.1:n.33+105_33+106insTTTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000545901.5:n.186+105_186+106insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000546302.5:c.33+105_33+106insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000445599.1:n.33+105_33+106insTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_000190.3:c.33+105_33+106insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NP_000181.2:n.33+105_33+106insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001258208.1:c.33+105_33+106insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NP_001245137.1:n.33+105_33+106insTTTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001258209.1:c.-19+14_-19+15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NP_001245138.1:n.-19+14_-19+15insTTTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_005271531.1:c.-19+14_-19+15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XP_005271588.1:n.-19+14_-19+15insTTTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_005271532.1:c.-19+38_-19+39insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XP_005271589.1:n.-19+38_-19+39insTTTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_005271533.2:c.33+105_33+106insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XP_005271590.1:n.33+105_33+106insTTTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_000190.4:c.33+105_33+106insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select NP_000181.2:n.33+105_33+106insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_005271533.3:c.33+105_33+106insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XP_005271590.1:n.33+105_33+106insTTTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_024448460.1:c.33+105_33+106insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XP_024304228.1:n.33+105_33+106insTTTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001258208.2:c.33+105_33+106insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NP_001245137.1:n.33+105_33+106insTTTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001258209.2:c.-19+14_-19+15insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NP_001245138.1:n.-19+14_-19+15insTTTTTTTTTTTTTTTTTTTTTTTTTTTT...