Canonical Allele Identifier: CA2695215818

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092160_119092164del , CM000673.2:g.119092160_119092164del	GRCh38
NC_000011.9:g.118962870_118962874del , CM000673.1:g.118962870_118962874del	GRCh37
NC_000011.8:g.118468080_118468084del	NCBI36
NG_008093.1:g.12284_12288del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.483_486+1del
ENST00000691144.1:n.2389_2393del
ENST00000691249.1:n.1232_1236del
ENST00000442944.7:c.630_633+1del
ENST00000536813.6:c.597_600+1del
ENST00000640813.1:c.462-244_462-240del	ENSP00000491061.1:n.462-244_462-240del
ENST00000648026.1:c.542_545+1del
ENST00000648374.1:c.597_600+1del
ENST00000649823.1:n.865_869del
ENST00000650101.1:c.579_582+1del
ENST00000650307.1:n.1474_1477+1del
ENST00000652429.1:c.648_651+1del
ENST00000278715.7:c.648_651+1del
ENST00000392841.1:c.597_600+1del
ENST00000442944.6:c.597_600+1del
ENST00000537841.5:c.597_600+1del
ENST00000542044.5:n.1093_1096+1del
ENST00000542345.5:n.786_790del
ENST00000542729.5:c.597_600+1del
ENST00000543090.5:c.559-244_559-240del	ENSP00000445429.1:n.559-244_559-240del
ENST00000543543.5:n.883_887del
ENST00000544182.1:n.623_627del
ENST00000544387.5:c.648_651+1del
ENST00000545621.5:c.*543_*547del	ENSP00000444849.1:n.*543_*547del
ENST00000546226.5:n.936_940del
ENST00000546302.5:c.570_574del	ENSP00000445599.1:p.Gly190=
NM_000190.3:c.648_651+1del
NM_001024382.1:c.597_600+1del
NM_001258208.1:c.648_651+1del
NM_001258209.1:c.597_600+1del
XM_005271531.1:c.597_600+1del
XM_005271532.1:c.597_600+1del
XM_005271533.2:c.594_597+1del
XM_011542796.1:c.483_486+1del
NM_000190.4:c.648_651+1del
NM_001024382.2:c.597_600+1del
XM_005271533.3:c.594_597+1del
XM_017017629.1:c.597_600+1del
XM_024448460.1:c.594_597+1del
NM_001258208.2:c.648_651+1del
NM_001258209.2:c.597_600+1del