Canonical Allele Identifier: CA2573146999

Gene: HMBS

Linked Data

• ClinVar Variation Id: 1412632
• ClinVar RCV Id: RCV001943244
• dbSNP Id: rs2134878870

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092407del , CM000673.2:g.119092407del	GRCh38
NC_000011.9:g.118963117del , CM000673.1:g.118963117del	GRCh37
NC_000011.8:g.118468327del	NCBI36
NG_008093.1:g.12531del

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.490del
ENST00000691144.1:n.2636del
ENST00000691249.1:n.1479del
ENST00000442944.7:c.637del
ENST00000536813.6:c.604del
ENST00000640813.1:c.465del
ENST00000648026.1:c.549del
ENST00000648374.1:c.604del
ENST00000649823.1:n.1112del
ENST00000650101.1:c.586del
ENST00000650307.1:n.1481del
ENST00000652429.1:c.655del
ENST00000278715.7:c.655del
ENST00000392841.1:c.604del
ENST00000442944.6:c.604del
ENST00000537841.5:c.604del
ENST00000542044.5:n.1100del
ENST00000542729.5:c.600+244del	ENSP00000443058.1:n.600+244del
ENST00000543090.5:c.562del
ENST00000543543.5:n.1130del
ENST00000544182.1:n.870del
ENST00000544387.5:c.651+244del	ENSP00000438424.1:n.651+244del
ENST00000545621.5:c.*790del	ENSP00000444849.1:n.*790del
ENST00000546226.5:n.1183del
NM_000190.3:c.655del
NM_001024382.1:c.604del
NM_001258208.1:c.651+244del	NP_001245137.1:n.651+244del
NM_001258209.1:c.600+244del	NP_001245138.1:n.600+244del
XM_005271531.1:c.604del
XM_005271532.1:c.604del
XM_005271533.2:c.601del
XM_011542796.1:c.490del
NM_000190.4:c.655del
NM_001024382.2:c.604del
XM_005271533.3:c.601del
XM_017017629.1:c.604del
XM_024448460.1:c.597+244del	XP_024304228.1:n.597+244del
NM_001258208.2:c.651+244del	NP_001245137.1:n.651+244del
NM_001258209.2:c.600+244del	NP_001245138.1:n.600+244del