Canonical Allele Identifier: CA2695215824
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092403_119092414delinsAGGGGCCTTGGA , CM000673.2:g.119092403_119092414delinsAGGGGCCTTGGA GRCh38
NC_000011.9:g.118963113_118963124delinsAGGGGCCTTGGA , CM000673.1:g.118963113_118963124delinsAGGGGCCTTGGA GRCh37
NC_000011.8:g.118468323_118468334delinsAGGGGCCTTGGA NCBI36
NG_008093.1:g.12527_12538delinsAGGGGCCTTGGA

Transcript Alleles

HGVS Amino-acid change
ENST00000686218.1:c.487-1_497delinsAGGGGCCTTGGA
ENST00000691144.1:n.2632_2643delinsAGGGGCCTTGGA
ENST00000691249.1:n.1475_1486delinsAGGGGCCTTGGA
ENST00000442944.7:c.634-1_644delinsAGGGGCCTTGGA
ENST00000536813.6:c.601-1_611delinsAGGGGCCTTGGA
ENST00000640813.1:c.462-1_472delinsAGGGGCCTTGGA
ENST00000648026.1:c.546-1_556delinsAGGGGCCTTGGA
ENST00000648374.1:c.601-1_611delinsAGGGGCCTTGGA
ENST00000649823.1:n.1108_1119delinsAGGGGCCTTGGA
ENST00000650101.1:c.583-1_593delinsAGGGGCCTTGGA
ENST00000650307.1:n.1478-1_1488delinsAGGGGCCTTGGA
ENST00000652429.1:c.652-1_662delinsAGGGGCCTTGGA
ENST00000278715.7:c.652-1_662delinsAGGGGCCTTGGA
ENST00000392841.1:c.601-1_611delinsAGGGGCCTTGGA
ENST00000442944.6:c.601-1_611delinsAGGGGCCTTGGA
ENST00000537841.5:c.601-1_611delinsAGGGGCCTTGGA
ENST00000542044.5:n.1097-1_1107delinsAGGGGCCTTGGA
ENST00000542729.5:c.600+240_600+251delinsAGGGGCCTTGGA ENSP00000443058.1:n.600+240_600+251delins...
ENST00000543090.5:c.559-1_569delinsAGGGGCCTTGGA
ENST00000543543.5:n.1126_1137delinsAGGGGCCTTGGA
ENST00000544182.1:n.866_877delinsAGGGGCCTTGGA
ENST00000544387.5:c.651+240_651+251delinsAGGGGCCTTGGA ENSP00000438424.1:n.651+240_651+251delins...
ENST00000545621.5:c.*786_*797delinsAGGGGCCTTGGA ENSP00000444849.1:n.*786_*797delinsAGGGGC...
ENST00000546226.5:n.1179_1190delinsAGGGGCCTTGGA
NM_000190.3:c.652-1_662delinsAGGGGCCTTGGA
NM_001024382.1:c.601-1_611delinsAGGGGCCTTGGA
NM_001258208.1:c.651+240_651+251delinsAGGGGCCTTGGA NP_001245137.1:n.651+240_651+251delinsAGG...
NM_001258209.1:c.600+240_600+251delinsAGGGGCCTTGGA NP_001245138.1:n.600+240_600+251delinsAGG...
XM_005271531.1:c.601-1_611delinsAGGGGCCTTGGA
XM_005271532.1:c.601-1_611delinsAGGGGCCTTGGA
XM_005271533.2:c.598-1_608delinsAGGGGCCTTGGA
XM_011542796.1:c.487-1_497delinsAGGGGCCTTGGA
NM_000190.4:c.652-1_662delinsAGGGGCCTTGGA
NM_001024382.2:c.601-1_611delinsAGGGGCCTTGGA
XM_005271533.3:c.598-1_608delinsAGGGGCCTTGGA
XM_017017629.1:c.601-1_611delinsAGGGGCCTTGGA
XM_024448460.1:c.597+240_597+251delinsAGGGGCCTTGGA XP_024304228.1:n.597+240_597+251delinsAGG...
NM_001258208.2:c.651+240_651+251delinsAGGGGCCTTGGA NP_001245137.1:n.651+240_651+251delinsAGG...
NM_001258209.2:c.600+240_600+251delinsAGGGGCCTTGGA NP_001245138.1:n.600+240_600+251delinsAGG...