Canonical Allele Identifier: CA2695215741

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093011_119093018del , CM000673.2:g.119093011_119093018del	GRCh38
NC_000011.9:g.118963721_118963728del , CM000673.1:g.118963721_118963728del	GRCh37
NC_000011.8:g.118468931_118468938del	NCBI36
NG_008093.1:g.13135_13142del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.737_744del	ENSP00000509288.1:p.Val246AlafsTer3
ENST00000691144.1:n.3117_3124del
ENST00000691249.1:n.1726_1733del
ENST00000442944.7:c.884_891del	ENSP00000392041.3:p.Val295AlafsTer3
ENST00000640813.1:c.*139_*146del	ENSP00000491061.1:n.*139_*146del
ENST00000648026.1:c.796_803del	ENSP00000498044.1:n.796_803del
ENST00000648374.1:c.851_858del	ENSP00000497255.1:p.Val284AlafsTer3
ENST00000650101.1:c.833_840del	ENSP00000496970.1:p.Val278AlafsTer3
ENST00000650307.1:n.1728_1735del
ENST00000652429.1:c.902_909del MANE Select	ENSP00000498786.1:p.Val301AlafsTer3
ENST00000278715.7:c.902_909del	ENSP00000278715.3:p.Val301AlafsTer3
ENST00000392841.1:c.851_858del	ENSP00000376584.1:p.Val284AlafsTer3
ENST00000442944.6:c.851_858del	ENSP00000392041.2:p.Val284AlafsTer3
ENST00000537841.5:c.851_858del	ENSP00000444730.1:p.Val284AlafsTer3
ENST00000539045.1:n.401_408del
ENST00000542044.5:n.1347_1354del
ENST00000542729.5:c.731_738del	ENSP00000443058.1:p.Val244AlafsTer3
ENST00000543090.5:c.809_816del	ENSP00000445429.1:p.Val270AlafsTer3
ENST00000543543.5:n.1377_1384del
ENST00000544182.1:n.1351_1358del
ENST00000544387.5:c.782_789del	ENSP00000438424.1:p.Val261AlafsTer3
ENST00000546226.5:n.1664_1671del
NM_000190.3:c.902_909del	NP_000181.2:p.Val301AlafsTer3
NM_001024382.1:c.851_858del	NP_001019553.1:p.Val284AlafsTer3
NM_001258208.1:c.782_789del	NP_001245137.1:p.Val261AlafsTer3
NM_001258209.1:c.731_738del	NP_001245138.1:p.Val244AlafsTer3
XM_005271531.1:c.851_858del	XP_005271588.1:p.Val284AlafsTer3
XM_005271532.1:c.851_858del	XP_005271589.1:p.Val284AlafsTer3
XM_005271533.2:c.848_855del	XP_005271590.1:p.Val283AlafsTer3
XM_011542796.1:c.737_744del	XP_011541098.1:p.Val246AlafsTer3
NM_000190.4:c.902_909del MANE Select	NP_000181.2:p.Val301AlafsTer3
NM_001024382.2:c.851_858del	NP_001019553.1:p.Val284AlafsTer3
XM_005271533.3:c.848_855del	XP_005271590.1:p.Val283AlafsTer3
XM_017017629.1:c.851_858del	XP_016873118.1:p.Val284AlafsTer3
XM_024448460.1:c.728_735del	XP_024304228.1:p.Val243AlafsTer3
NM_001258208.2:c.782_789del	NP_001245137.1:p.Val261AlafsTer3
NM_001258209.2:c.731_738del	NP_001245138.1:p.Val244AlafsTer3