Canonical Allele Identifier: CA602182585
Gene: HMBS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119085217_119085218insTTTTTTTT , CM000673.2:g.119085217_119085218insTTTTTTTT GRCh38
NC_000011.9:g.118955927_118955928insTTTTTTTT , CM000673.1:g.118955927_118955928insTTTTTTTT GRCh37
NC_000011.8:g.118461137_118461138insTTTTTTTT NCBI36
NG_008093.1:g.5341_5342insTTTTTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000442944.7:c.33+151_33+152insTTTTTTTT ENSP00000392041.3:n.33+151_33+152insTTTTTTTT
ENST00000534956.2:n.36+151_36+152insTTTTTTTT
ENST00000536813.6:c.-102+151_-102+152insTTTTTTTT ENSP00000438726.2:n.-102+151_-102+152insTTTTTTTT
ENST00000546302.6:c.33+151_33+152insTTTTTTTT ENSP00000445599.1:n.33+151_33+152insTTTTTTTT
ENST00000640813.1:c.-19+151_-19+152insTTTTTTTT ENSP00000491061.1:n.-19+151_-19+152insTTTTTTTT
ENST00000648026.1:c.27+151_27+152insTTTTTTTT ENSP00000498044.1:n.27+151_27+152insTTTTTTTT
ENST00000649868.1:c.33+151_33+152insTTTTTTTT ENSP00000497548.1:n.33+151_33+152insTTTTTTTT
ENST00000652429.1:c.33+151_33+152insTTTTTTTT MANE Select ENSP00000498786.1:n.33+151_33+152insTTTTTTTT
ENST00000278715.7:c.33+151_33+152insTTTTTTTT ENSP00000278715.3:n.33+151_33+152insTTTTTTTT
ENST00000442944.6:c.-102+151_-102+152insTTTTTTTT ENSP00000392041.2:n.-102+151_-102+152insTTTTTTTT
ENST00000535793.5:c.33+151_33+152insTTTTTTTT ENSP00000439904.1:n.33+151_33+152insTTTTTTTT
ENST00000536185.5:n.201+151_201+152insTTTTTTTT
ENST00000536813.5:c.33+151_33+152insTTTTTTTT ENSP00000438726.1:n.33+151_33+152insTTTTTTTT
ENST00000537841.5:c.-19+60_-19+61insTTTTTTTT ENSP00000444730.1:n.-19+60_-19+61insTTTTTTTT
ENST00000542044.5:n.158+151_158+152insTTTTTTTT
ENST00000542729.5:c.-19+60_-19+61insTTTTTTTT ENSP00000443058.1:n.-19+60_-19+61insTTTTTTTT
ENST00000542822.5:c.124+60_124+61insTTTTTTTT ENSP00000444817.1:n.124+60_124+61insTTTTTTTT
ENST00000543090.5:c.33+151_33+152insTTTTTTTT ENSP00000445429.1:n.33+151_33+152insTTTTTTTT
ENST00000543821.5:n.179+151_179+152insTTTTTTTT
ENST00000544387.5:c.33+151_33+152insTTTTTTTT ENSP00000438424.1:n.33+151_33+152insTTTTTTTT
ENST00000545621.5:c.33+151_33+152insTTTTTTTT ENSP00000444849.1:n.33+151_33+152insTTTTTTTT
ENST00000545901.5:n.186+151_186+152insTTTTTTTT
ENST00000546302.5:c.33+151_33+152insTTTTTTTT ENSP00000445599.1:n.33+151_33+152insTTTTTTTT
NM_000190.3:c.33+151_33+152insTTTTTTTT NP_000181.2:n.33+151_33+152insTTTTTTTT
NM_001258208.1:c.33+151_33+152insTTTTTTTT NP_001245137.1:n.33+151_33+152insTTTTTTTT
NM_001258209.1:c.-19+60_-19+61insTTTTTTTT NP_001245138.1:n.-19+60_-19+61insTTTTTTTT
XM_005271531.1:c.-19+60_-19+61insTTTTTTTT XP_005271588.1:n.-19+60_-19+61insTTTTTTTT
XM_005271532.1:c.-19+84_-19+85insTTTTTTTT XP_005271589.1:n.-19+84_-19+85insTTTTTTTT
XM_005271533.2:c.33+151_33+152insTTTTTTTT XP_005271590.1:n.33+151_33+152insTTTTTTTT
NM_000190.4:c.33+151_33+152insTTTTTTTT MANE Select NP_000181.2:n.33+151_33+152insTTTTTTTT
XM_005271533.3:c.33+151_33+152insTTTTTTTT XP_005271590.1:n.33+151_33+152insTTTTTTTT
XM_024448460.1:c.33+151_33+152insTTTTTTTT XP_024304228.1:n.33+151_33+152insTTTTTTTT
NM_001258208.2:c.33+151_33+152insTTTTTTTT NP_001245137.1:n.33+151_33+152insTTTTTTTT
NM_001258209.2:c.-19+60_-19+61insTTTTTTTT NP_001245138.1:n.-19+60_-19+61insTTTTTTTT