Canonical Allele Identifier: CA2003791255
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092303_119092320delinsCCAAAAGGCGCTGGGGAG , CM000673.2:g.119092303_119092320delinsCCAAAAGGCGCTGGGGAG GRCh38
NC_000011.9:g.118963013_118963030delinsCCAAAAGGCGCTGGGGAG , CM000673.1:g.118963013_118963030delinsCCAAAAGGCGCTGGGGAG GRCh37
NC_000011.8:g.118468223_118468240delinsCCAAAAGGCGCTGGGGAG NCBI36
NG_008093.1:g.12427_12444delinsCCAAAAGGCGCTGGGGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.487-101_487-84delinsCCAAAAGGCGCTGGGGAG ENSP00000509288.1:n.487-101_487-84delinsCCAAAAGGCGCTGGGGAG
ENST00000691144.1:n.2532_2549delinsCCAAAAGGCGCTGGGGAG
ENST00000691249.1:n.1375_1392delinsCCAAAAGGCGCTGGGGAG
ENST00000442944.7:c.634-101_634-84delinsCCAAAAGGCGCTGGGGAG ENSP00000392041.3:n.634-101_634-84delinsCCAAAAGGCGCTGGGGAG
ENST00000536813.6:c.601-101_601-84delinsCCAAAAGGCGCTGGGGAG ENSP00000438726.2:n.601-101_601-84delinsCCAAAAGGCGCTGGGGAG
ENST00000640813.1:c.462-101_462-84delinsCCAAAAGGCGCTGGGGAG ENSP00000491061.1:n.462-101_462-84delinsCCAAAAGGCGCTGGGGAG
ENST00000648026.1:c.546-101_546-84delinsCCAAAAGGCGCTGGGGAG ENSP00000498044.1:n.546-101_546-84delinsCCAAAAGGCGCTGGGGAG
ENST00000648374.1:c.601-101_601-84delinsCCAAAAGGCGCTGGGGAG ENSP00000497255.1:n.601-101_601-84delinsCCAAAAGGCGCTGGGGAG
ENST00000649823.1:n.1008_1025delinsCCAAAAGGCGCTGGGGAG
ENST00000650101.1:c.583-101_583-84delinsCCAAAAGGCGCTGGGGAG ENSP00000496970.1:n.583-101_583-84delinsCCAAAAGGCGCTGGGGAG
ENST00000650307.1:n.1478-101_1478-84delinsCCAAAAGGCGCTGGGGAG
ENST00000652429.1:c.652-101_652-84delinsCCAAAAGGCGCTGGGGAG MANE Select ENSP00000498786.1:n.652-101_652-84delinsCCAAAAGGCGCTGGGGAG
ENST00000278715.7:c.652-101_652-84delinsCCAAAAGGCGCTGGGGAG ENSP00000278715.3:n.652-101_652-84delinsCCAAAAGGCGCTGGGGAG
ENST00000392841.1:c.601-101_601-84delinsCCAAAAGGCGCTGGGGAG ENSP00000376584.1:n.601-101_601-84delinsCCAAAAGGCGCTGGGGAG
ENST00000442944.6:c.601-101_601-84delinsCCAAAAGGCGCTGGGGAG ENSP00000392041.2:n.601-101_601-84delinsCCAAAAGGCGCTGGGGAG
ENST00000537841.5:c.601-101_601-84delinsCCAAAAGGCGCTGGGGAG ENSP00000444730.1:n.601-101_601-84delinsCCAAAAGGCGCTGGGGAG
ENST00000542044.5:n.1097-101_1097-84delinsCCAAAAGGCGCTGGGGAG
ENST00000542729.5:c.600+140_600+157delinsCCAAAAGGCGCTGGGGAG ENSP00000443058.1:n.600+140_600+157delinsCCAAAAGGCGCTGGGGAG
ENST00000543090.5:c.559-101_559-84delinsCCAAAAGGCGCTGGGGAG ENSP00000445429.1:n.559-101_559-84delinsCCAAAAGGCGCTGGGGAG
ENST00000543543.5:n.1026_1043delinsCCAAAAGGCGCTGGGGAG
ENST00000544182.1:n.766_783delinsCCAAAAGGCGCTGGGGAG
ENST00000544387.5:c.651+140_651+157delinsCCAAAAGGCGCTGGGGAG ENSP00000438424.1:n.651+140_651+157delinsCCAAAAGGCGCTGGGGAG
ENST00000545621.5:c.*686_*703delinsCCAAAAGGCGCTGGGGAG ENSP00000444849.1:n.*686_*703delinsCCAAAAGGCGCTGGGGAG
ENST00000546226.5:n.1079_1096delinsCCAAAAGGCGCTGGGGAG
NM_000190.3:c.652-101_652-84delinsCCAAAAGGCGCTGGGGAG NP_000181.2:n.652-101_652-84delinsCCAAAAGGCGCTGGGGAG
NM_001024382.1:c.601-101_601-84delinsCCAAAAGGCGCTGGGGAG NP_001019553.1:n.601-101_601-84delinsCCAAAAGGCGCTGGGGAG
NM_001258208.1:c.651+140_651+157delinsCCAAAAGGCGCTGGGGAG NP_001245137.1:n.651+140_651+157delinsCCAAAAGGCGCTGGGGAG
NM_001258209.1:c.600+140_600+157delinsCCAAAAGGCGCTGGGGAG NP_001245138.1:n.600+140_600+157delinsCCAAAAGGCGCTGGGGAG
XM_005271531.1:c.601-101_601-84delinsCCAAAAGGCGCTGGGGAG XP_005271588.1:n.601-101_601-84delinsCCAAAAGGCGCTGGGGAG
XM_005271532.1:c.601-101_601-84delinsCCAAAAGGCGCTGGGGAG XP_005271589.1:n.601-101_601-84delinsCCAAAAGGCGCTGGGGAG
XM_005271533.2:c.598-101_598-84delinsCCAAAAGGCGCTGGGGAG XP_005271590.1:n.598-101_598-84delinsCCAAAAGGCGCTGGGGAG
XM_011542796.1:c.487-101_487-84delinsCCAAAAGGCGCTGGGGAG XP_011541098.1:n.487-101_487-84delinsCCAAAAGGCGCTGGGGAG
NM_000190.4:c.652-101_652-84delinsCCAAAAGGCGCTGGGGAG MANE Select NP_000181.2:n.652-101_652-84delinsCCAAAAGGCGCTGGGGAG
NM_001024382.2:c.601-101_601-84delinsCCAAAAGGCGCTGGGGAG NP_001019553.1:n.601-101_601-84delinsCCAAAAGGCGCTGGGGAG
XM_005271533.3:c.598-101_598-84delinsCCAAAAGGCGCTGGGGAG XP_005271590.1:n.598-101_598-84delinsCCAAAAGGCGCTGGGGAG
XM_017017629.1:c.601-101_601-84delinsCCAAAAGGCGCTGGGGAG XP_016873118.1:n.601-101_601-84delinsCCAAAAGGCGCTGGGGAG
XM_024448460.1:c.597+140_597+157delinsCCAAAAGGCGCTGGGGAG XP_024304228.1:n.597+140_597+157delinsCCAAAAGGCGCTGGGGAG
NM_001258208.2:c.651+140_651+157delinsCCAAAAGGCGCTGGGGAG NP_001245137.1:n.651+140_651+157delinsCCAAAAGGCGCTGGGGAG
NM_001258209.2:c.600+140_600+157delinsCCAAAAGGCGCTGGGGAG NP_001245138.1:n.600+140_600+157delinsCCAAAAGGCGCTGGGGAG