Canonical Allele Identifier: CA2003791394
Gene: HMBS HGNC NCBI

Linked Data

dbSNP Id: rs1946292981

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092389_119092391dup , CM000673.2:g.119092389_119092391dup GRCh38
NC_000011.9:g.118963099_118963101dup , CM000673.1:g.118963099_118963101dup GRCh37
NC_000011.8:g.118468309_118468311dup NCBI36
NG_008093.1:g.12513_12515dup

Transcript Alleles

HGVS Amino-acid change
ENST00000686218.1:c.487-15_487-13dup ENSP00000509288.1:n.487-15_487-13dup
ENST00000691144.1:n.2618_2620dup
ENST00000691249.1:n.1461_1463dup
ENST00000442944.7:c.634-15_634-13dup ENSP00000392041.3:n.634-15_634-13dup
ENST00000536813.6:c.601-15_601-13dup ENSP00000438726.2:n.601-15_601-13dup
ENST00000640813.1:c.462-15_462-13dup ENSP00000491061.1:n.462-15_462-13dup
ENST00000648026.1:c.546-15_546-13dup ENSP00000498044.1:n.546-15_546-13dup
ENST00000648374.1:c.601-15_601-13dup ENSP00000497255.1:n.601-15_601-13dup
ENST00000649823.1:n.1094_1096dup
ENST00000650101.1:c.583-15_583-13dup ENSP00000496970.1:n.583-15_583-13dup
ENST00000650307.1:n.1478-15_1478-13dup
ENST00000652429.1:c.652-15_652-13dup MANE Select ENSP00000498786.1:n.652-15_652-13dup
ENST00000278715.7:c.652-15_652-13dup ENSP00000278715.3:n.652-15_652-13dup
ENST00000392841.1:c.601-15_601-13dup ENSP00000376584.1:n.601-15_601-13dup
ENST00000442944.6:c.601-15_601-13dup ENSP00000392041.2:n.601-15_601-13dup
ENST00000537841.5:c.601-15_601-13dup ENSP00000444730.1:n.601-15_601-13dup
ENST00000542044.5:n.1097-15_1097-13dup
ENST00000542729.5:c.600+226_600+228dup ENSP00000443058.1:n.600+226_600+228dup
ENST00000543090.5:c.559-15_559-13dup ENSP00000445429.1:n.559-15_559-13dup
ENST00000543543.5:n.1112_1114dup
ENST00000544182.1:n.852_854dup
ENST00000544387.5:c.651+226_651+228dup ENSP00000438424.1:n.651+226_651+228dup
ENST00000545621.5:c.*772_*774dup ENSP00000444849.1:n.*772_*774dup
ENST00000546226.5:n.1165_1167dup
NM_000190.3:c.652-15_652-13dup NP_000181.2:n.652-15_652-13dup
NM_001024382.1:c.601-15_601-13dup NP_001019553.1:n.601-15_601-13dup
NM_001258208.1:c.651+226_651+228dup NP_001245137.1:n.651+226_651+228dup
NM_001258209.1:c.600+226_600+228dup NP_001245138.1:n.600+226_600+228dup
XM_005271531.1:c.601-15_601-13dup XP_005271588.1:n.601-15_601-13dup
XM_005271532.1:c.601-15_601-13dup XP_005271589.1:n.601-15_601-13dup
XM_005271533.2:c.598-15_598-13dup XP_005271590.1:n.598-15_598-13dup
XM_011542796.1:c.487-15_487-13dup XP_011541098.1:n.487-15_487-13dup
NM_000190.4:c.652-15_652-13dup MANE Select NP_000181.2:n.652-15_652-13dup
NM_001024382.2:c.601-15_601-13dup NP_001019553.1:n.601-15_601-13dup
XM_005271533.3:c.598-15_598-13dup XP_005271590.1:n.598-15_598-13dup
XM_017017629.1:c.601-15_601-13dup XP_016873118.1:n.601-15_601-13dup
XM_024448460.1:c.597+226_597+228dup XP_024304228.1:n.597+226_597+228dup
NM_001258208.2:c.651+226_651+228dup NP_001245137.1:n.651+226_651+228dup
NM_001258209.2:c.600+226_600+228dup NP_001245138.1:n.600+226_600+228dup