Canonical Allele Identifier: CA2499220803

Gene: HMBS

Linked Data

• ClinVar Variation Id: 1071554
• ClinVar RCV Id: RCV001384054
• dbSNP Id: rs2134885911

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093179_119093180del , CM000673.2:g.119093179_119093180del	GRCh38
NC_000011.9:g.118963889_118963890del , CM000673.1:g.118963889_118963890del	GRCh37
NC_000011.8:g.118469099_118469100del	NCBI36
NG_008093.1:g.13303_13304del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.817_818del	ENSP00000509288.1:p.Gln273ValfsTer30
ENST00000691144.1:n.3197_3198del
ENST00000691249.1:n.1806_1807del
ENST00000442944.7:c.964_965del	ENSP00000392041.3:p.Gln322ValfsTer30
ENST00000640813.1:c.*219_*220del	ENSP00000491061.1:n.*219_*220del
ENST00000648026.1:c.876_877del	ENSP00000498044.1:n.876_877del
ENST00000648374.1:c.931_932del	ENSP00000497255.1:p.Gln311ValfsTer30
ENST00000650101.1:c.913_914del	ENSP00000496970.1:p.Gln305ValfsTer30
ENST00000650307.1:n.1808_1809del
ENST00000652429.1:c.982_983del MANE Select	ENSP00000498786.1:p.Gln328ValfsTer30
ENST00000278715.7:c.982_983del	ENSP00000278715.3:p.Gln328ValfsTer30
ENST00000392841.1:c.931_932del	ENSP00000376584.1:p.Gln311ValfsTer30
ENST00000442944.6:c.931_932del	ENSP00000392041.2:p.Gln311ValfsTer30
ENST00000537841.5:c.931_932del	ENSP00000444730.1:p.Gln311ValfsTer30
ENST00000539045.1:n.481_482del
ENST00000542044.5:n.1427_1428del
ENST00000542729.5:c.811_812del	ENSP00000443058.1:p.Gln271ValfsTer30
ENST00000543090.5:c.889_890del	ENSP00000445429.1:p.Gln297ValfsTer30
ENST00000543543.5:n.1457_1458del
ENST00000544182.1:n.1431_1432del
ENST00000544387.5:c.862_863del	ENSP00000438424.1:p.Gln288ValfsTer30
ENST00000546226.5:n.1744_1745del
NM_000190.3:c.982_983del	NP_000181.2:p.Gln328ValfsTer30
NM_001024382.1:c.931_932del	NP_001019553.1:p.Gln311ValfsTer30
NM_001258208.1:c.862_863del	NP_001245137.1:p.Gln288ValfsTer30
NM_001258209.1:c.811_812del	NP_001245138.1:p.Gln271ValfsTer30
XM_005271531.1:c.931_932del	XP_005271588.1:p.Gln311ValfsTer30
XM_005271532.1:c.931_932del	XP_005271589.1:p.Gln311ValfsTer30
XM_005271533.2:c.928_929del	XP_005271590.1:p.Gln310ValfsTer30
XM_011542796.1:c.817_818del	XP_011541098.1:p.Gln273ValfsTer30
NM_000190.4:c.982_983del MANE Select	NP_000181.2:p.Gln328ValfsTer30
NM_001024382.2:c.931_932del	NP_001019553.1:p.Gln311ValfsTer30
XM_005271533.3:c.928_929del	XP_005271590.1:p.Gln310ValfsTer30
XM_017017629.1:c.931_932del	XP_016873118.1:p.Gln311ValfsTer30
XM_024448460.1:c.808_809del	XP_024304228.1:p.Gln270ValfsTer30
NM_001258208.2:c.862_863del	NP_001245137.1:p.Gln288ValfsTer30
NM_001258209.2:c.811_812del	NP_001245138.1:p.Gln271ValfsTer30