Canonical Allele Identifier: CA2695215763

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093191_119093322del , CM000673.2:g.119093191_119093322del	GRCh38
NC_000011.9:g.118963901_118964032del , CM000673.1:g.118963901_118964032del	GRCh37
NC_000011.8:g.118469111_118469242del	NCBI36
NG_008093.1:g.13315_13446del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.829_*39del	ENSP00000509288.1:n.[c.829_*39del;Gln277SerfsTer18]
ENST00000691144.1:n.3209_3340del
ENST00000691249.1:n.1818_1949del
ENST00000442944.7:c.976_*39del	ENSP00000392041.3:n.[c.976_*39del;Gln326SerfsTer18]
ENST00000640813.1:c.*231_*362del	ENSP00000491061.1:n.*231_*362del
ENST00000648026.1:c.888_1019del	ENSP00000498044.1:n.888_1019del
ENST00000648374.1:c.943_*39del	ENSP00000497255.1:n.[c.943_*39del;Gln315SerfsTer18]
ENST00000650101.1:c.925_*39del	ENSP00000496970.1:n.[c.925_*39del;Gln309SerfsTer18]
ENST00000650307.1:n.1820_1951del
ENST00000652429.1:c.994_*39del MANE Select	ENSP00000498786.1:n.[c.994_*39del;Gln332SerfsTer18]
ENST00000278715.7:c.994_*39del	ENSP00000278715.3:n.[c.994_*39del;Gln332SerfsTer18]
ENST00000392841.1:c.943_*39del	ENSP00000376584.1:n.[c.943_*39del;Gln315SerfsTer18]
ENST00000442944.6:c.943_*39del	ENSP00000392041.2:n.[c.943_*39del;Gln315SerfsTer18]
ENST00000537841.5:c.943_*39del	ENSP00000444730.1:n.[c.943_*39del;Gln315SerfsTer18]
ENST00000539045.1:n.493_624del
ENST00000542729.5:c.823_*39del	ENSP00000443058.1:n.[c.823_*39del;Gln275SerfsTer18]
ENST00000543090.5:c.901_*39del	ENSP00000445429.1:n.[c.901_*39del;Gln301SerfsTer18]
ENST00000543543.5:n.1469_1600del
ENST00000544387.5:c.874_*39del	ENSP00000438424.1:n.[c.874_*39del;Gln292SerfsTer18]
ENST00000546226.5:n.1756_1887del
NM_000190.3:c.994_*39del	NP_000181.2:n.[c.994_*39del;Gln332SerfsTer18]
NM_001024382.1:c.943_*39del	NP_001019553.1:n.[c.943_*39del;Gln315SerfsTer18]
NM_001258208.1:c.874_*39del	NP_001245137.1:n.[c.874_*39del;Gln292SerfsTer18]
NM_001258209.1:c.823_*39del	NP_001245138.1:n.[c.823_*39del;Gln275SerfsTer18]
XM_005271531.1:c.943_*39del	XP_005271588.1:n.[c.943_*39del;Gln315SerfsTer18]
XM_005271532.1:c.943_*39del	XP_005271589.1:n.[c.943_*39del;Gln315SerfsTer18]
XM_005271533.2:c.940_*39del	XP_005271590.1:n.[c.940_*39del;Gln314SerfsTer18]
XM_011542796.1:c.829_*39del	XP_011541098.1:n.[c.829_*39del;Gln277SerfsTer18]
NM_000190.4:c.994_*39del MANE Select	NP_000181.2:n.[c.994_*39del;Gln332SerfsTer18]
NM_001024382.2:c.943_*39del	NP_001019553.1:n.[c.943_*39del;Gln315SerfsTer18]
XM_005271533.3:c.940_*39del	XP_005271590.1:n.[c.940_*39del;Gln314SerfsTer18]
XM_017017629.1:c.943_*39del	XP_016873118.1:n.[c.943_*39del;Gln315SerfsTer18]
XM_024448460.1:c.820_*39del	XP_024304228.1:n.[c.820_*39del;Gln274SerfsTer18]
NM_001258208.2:c.874_*39del	NP_001245137.1:n.[c.874_*39del;Gln292SerfsTer18]
NM_001258209.2:c.823_*39del	NP_001245138.1:n.[c.823_*39del;Gln275SerfsTer18]