Canonical Allele Identifier: CA2695215730

Gene: HMBS

Linked Data

• ClinVar Variation Id: 2683624
• ClinVar RCV Id: RCV003480444

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092975_119092978del , CM000673.2:g.119092975_119092978del	GRCh38
NC_000011.9:g.118963685_118963688del , CM000673.1:g.118963685_118963688del	GRCh37
NC_000011.8:g.118468895_118468898del	NCBI36
NG_008093.1:g.13099_13102del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.701_704del	ENSP00000509288.1:p.Asp234AlafsTer27
ENST00000691144.1:n.3081_3084del
ENST00000691249.1:n.1690_1693del
ENST00000442944.7:c.848_851del	ENSP00000392041.3:p.Asp283AlafsTer27
ENST00000640813.1:c.*103_*106del	ENSP00000491061.1:n.*103_*106del
ENST00000648026.1:c.760_763del	ENSP00000498044.1:n.760_763del
ENST00000648374.1:c.815_818del	ENSP00000497255.1:p.Asp272AlafsTer27
ENST00000650101.1:c.797_800del	ENSP00000496970.1:p.Asp266AlafsTer27
ENST00000650307.1:n.1692_1695del
ENST00000652429.1:c.866_869del MANE Select	ENSP00000498786.1:p.Asp289AlafsTer27
ENST00000278715.7:c.866_869del	ENSP00000278715.3:p.Asp289AlafsTer27
ENST00000392841.1:c.815_818del	ENSP00000376584.1:p.Asp272AlafsTer27
ENST00000442944.6:c.815_818del	ENSP00000392041.2:p.Asp272AlafsTer27
ENST00000537841.5:c.815_818del	ENSP00000444730.1:p.Asp272AlafsTer27
ENST00000539045.1:n.365_368del
ENST00000542044.5:n.1311_1314del
ENST00000542729.5:c.695_698del	ENSP00000443058.1:p.Asp232AlafsTer27
ENST00000543090.5:c.773_776del	ENSP00000445429.1:p.Asp258AlafsTer27
ENST00000543543.5:n.1341_1344del
ENST00000544182.1:n.1315_1318del
ENST00000544387.5:c.746_749del	ENSP00000438424.1:p.Asp249AlafsTer27
ENST00000546226.5:n.1628_1631del
NM_000190.3:c.866_869del	NP_000181.2:p.Asp289AlafsTer27
NM_001024382.1:c.815_818del	NP_001019553.1:p.Asp272AlafsTer27
NM_001258208.1:c.746_749del	NP_001245137.1:p.Asp249AlafsTer27
NM_001258209.1:c.695_698del	NP_001245138.1:p.Asp232AlafsTer27
XM_005271531.1:c.815_818del	XP_005271588.1:p.Asp272AlafsTer27
XM_005271532.1:c.815_818del	XP_005271589.1:p.Asp272AlafsTer27
XM_005271533.2:c.812_815del	XP_005271590.1:p.Asp271AlafsTer27
XM_011542796.1:c.701_704del	XP_011541098.1:p.Asp234AlafsTer27
NM_000190.4:c.866_869del MANE Select	NP_000181.2:p.Asp289AlafsTer27
NM_001024382.2:c.815_818del	NP_001019553.1:p.Asp272AlafsTer27
XM_005271533.3:c.812_815del	XP_005271590.1:p.Asp271AlafsTer27
XM_017017629.1:c.815_818del	XP_016873118.1:p.Asp272AlafsTer27
XM_024448460.1:c.692_695del	XP_024304228.1:p.Asp231AlafsTer27
NM_001258208.2:c.746_749del	NP_001245137.1:p.Asp249AlafsTer27
NM_001258209.2:c.695_698del	NP_001245138.1:p.Asp232AlafsTer27