Canonical Allele Identifier: CA2841359111
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092578dup , CM000673.2:g.119092578dup GRCh38
NC_000011.9:g.118963288dup , CM000673.1:g.118963288dup GRCh37
NC_000011.8:g.118468498dup NCBI36
NG_008093.1:g.12702dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.606+55dup ENSP00000509288.1:n.606+55dup
ENST00000691144.1:n.2807dup
ENST00000691249.1:n.1595+55dup
ENST00000442944.7:c.753+55dup ENSP00000392041.3:n.753+55dup
ENST00000640813.1:c.*8+55dup ENSP00000491061.1:n.*8+55dup
ENST00000648026.1:c.665+55dup ENSP00000498044.1:n.665+55dup
ENST00000648374.1:c.720+55dup ENSP00000497255.1:n.720+55dup
ENST00000649823.1:n.1228+55dup
ENST00000650101.1:c.702+55dup ENSP00000496970.1:n.702+55dup
ENST00000650307.1:n.1597+55dup
ENST00000652429.1:c.771+55dup MANE Select ENSP00000498786.1:n.771+55dup
ENST00000278715.7:c.771+55dup ENSP00000278715.3:n.771+55dup
ENST00000392841.1:c.720+55dup ENSP00000376584.1:n.720+55dup
ENST00000442944.6:c.720+55dup ENSP00000392041.2:n.720+55dup
ENST00000537841.5:c.720+55dup ENSP00000444730.1:n.720+55dup
ENST00000542044.5:n.1216+55dup
ENST00000542729.5:c.601-180dup ENSP00000443058.1:n.601-180dup
ENST00000543090.5:c.678+55dup ENSP00000445429.1:n.678+55dup
ENST00000543543.5:n.1246+55dup
ENST00000544182.1:n.1041dup
ENST00000544387.5:c.652-180dup ENSP00000438424.1:n.652-180dup
ENST00000546226.5:n.1354dup
NM_000190.3:c.771+55dup NP_000181.2:n.771+55dup
NM_001024382.1:c.720+55dup NP_001019553.1:n.720+55dup
NM_001258208.1:c.652-180dup NP_001245137.1:n.652-180dup
NM_001258209.1:c.601-180dup NP_001245138.1:n.601-180dup
XM_005271531.1:c.720+55dup XP_005271588.1:n.720+55dup
XM_005271532.1:c.720+55dup XP_005271589.1:n.720+55dup
XM_005271533.2:c.717+55dup XP_005271590.1:n.717+55dup
XM_011542796.1:c.606+55dup XP_011541098.1:n.606+55dup
NM_000190.4:c.771+55dup MANE Select NP_000181.2:n.771+55dup
NM_001024382.2:c.720+55dup NP_001019553.1:n.720+55dup
XM_005271533.3:c.717+55dup XP_005271590.1:n.717+55dup
XM_017017629.1:c.720+55dup XP_016873118.1:n.720+55dup
XM_024448460.1:c.598-180dup XP_024304228.1:n.598-180dup
NM_001258208.2:c.652-180dup NP_001245137.1:n.652-180dup
NM_001258209.2:c.601-180dup NP_001245138.1:n.601-180dup