Canonical Allele Identifier: CA2695215766

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093205del , CM000673.2:g.119093205del	GRCh38
NC_000011.9:g.118963915del , CM000673.1:g.118963915del	GRCh37
NC_000011.8:g.118469125del	NCBI36
NG_008093.1:g.13329del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.843del	ENSP00000509288.1:p.Ser282AlafsTer7
ENST00000691144.1:n.3223del
ENST00000691249.1:n.1832del
ENST00000442944.7:c.990del	ENSP00000392041.3:p.Ser331AlafsTer7
ENST00000640813.1:c.*245del	ENSP00000491061.1:n.*245del
ENST00000648026.1:c.902del	ENSP00000498044.1:n.902del
ENST00000648374.1:c.957del	ENSP00000497255.1:p.Ser320AlafsTer7
ENST00000650101.1:c.939del	ENSP00000496970.1:p.Ser314AlafsTer7
ENST00000650307.1:n.1834del
ENST00000652429.1:c.1008del MANE Select	ENSP00000498786.1:p.Ser337AlafsTer7
ENST00000278715.7:c.1008del	ENSP00000278715.3:p.Ser337AlafsTer7
ENST00000392841.1:c.957del	ENSP00000376584.1:p.Ser320AlafsTer7
ENST00000442944.6:c.957del	ENSP00000392041.2:p.Ser320AlafsTer7
ENST00000537841.5:c.957del	ENSP00000444730.1:p.Ser320AlafsTer7
ENST00000539045.1:n.507del
ENST00000542044.5:n.1453del
ENST00000542729.5:c.837del	ENSP00000443058.1:p.Ser280AlafsTer7
ENST00000543090.5:c.915del	ENSP00000445429.1:p.Ser306AlafsTer7
ENST00000543543.5:n.1483del
ENST00000544182.1:n.1457del
ENST00000544387.5:c.888del	ENSP00000438424.1:p.Ser297AlafsTer7
ENST00000546226.5:n.1770del
NM_000190.3:c.1008del	NP_000181.2:p.Ser337AlafsTer7
NM_001024382.1:c.957del	NP_001019553.1:p.Ser320AlafsTer7
NM_001258208.1:c.888del	NP_001245137.1:p.Ser297AlafsTer7
NM_001258209.1:c.837del	NP_001245138.1:p.Ser280AlafsTer7
XM_005271531.1:c.957del	XP_005271588.1:p.Ser320AlafsTer7
XM_005271532.1:c.957del	XP_005271589.1:p.Ser320AlafsTer7
XM_005271533.2:c.954del	XP_005271590.1:p.Ser319AlafsTer7
XM_011542796.1:c.843del	XP_011541098.1:p.Ser282AlafsTer7
NM_000190.4:c.1008del MANE Select	NP_000181.2:p.Ser337AlafsTer7
NM_001024382.2:c.957del	NP_001019553.1:p.Ser320AlafsTer7
XM_005271533.3:c.954del	XP_005271590.1:p.Ser319AlafsTer7
XM_017017629.1:c.957del	XP_016873118.1:p.Ser320AlafsTer7
XM_024448460.1:c.834del	XP_024304228.1:p.Ser279AlafsTer7
NM_001258208.2:c.888del	NP_001245137.1:p.Ser297AlafsTer7
NM_001258209.2:c.837del	NP_001245138.1:p.Ser280AlafsTer7