Canonical Allele Identifier: CA2695215761

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093182_119093193del , CM000673.2:g.119093182_119093193del	GRCh38
NC_000011.9:g.118963892_118963903del , CM000673.1:g.118963892_118963903del	GRCh37
NC_000011.8:g.118469102_118469113del	NCBI36
NG_008093.1:g.13306_13317del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.820_831del	ENSP00000509288.1:p.Leu274_Gln277del
ENST00000691144.1:n.3200_3211del
ENST00000691249.1:n.1809_1820del
ENST00000442944.7:c.967_978del	ENSP00000392041.3:p.Leu323_Gln326del
ENST00000640813.1:c.*222_*233del	ENSP00000491061.1:n.*222_*233del
ENST00000648026.1:c.879_890del	ENSP00000498044.1:n.879_890del
ENST00000648374.1:c.934_945del	ENSP00000497255.1:p.Leu312_Gln315del
ENST00000650101.1:c.916_927del	ENSP00000496970.1:p.Leu306_Gln309del
ENST00000650307.1:n.1811_1822del
ENST00000652429.1:c.985_996del MANE Select	ENSP00000498786.1:p.Leu329_Gln332del
ENST00000278715.7:c.985_996del	ENSP00000278715.3:p.Leu329_Gln332del
ENST00000392841.1:c.934_945del	ENSP00000376584.1:p.Leu312_Gln315del
ENST00000442944.6:c.934_945del	ENSP00000392041.2:p.Leu312_Gln315del
ENST00000537841.5:c.934_945del	ENSP00000444730.1:p.Leu312_Gln315del
ENST00000539045.1:n.484_495del
ENST00000542044.5:n.1430_1441del
ENST00000542729.5:c.814_825del	ENSP00000443058.1:p.Leu272_Gln275del
ENST00000543090.5:c.892_903del	ENSP00000445429.1:p.Leu298_Gln301del
ENST00000543543.5:n.1460_1471del
ENST00000544182.1:n.1434_1445del
ENST00000544387.5:c.865_876del	ENSP00000438424.1:p.Leu289_Gln292del
ENST00000546226.5:n.1747_1758del
NM_000190.3:c.985_996del	NP_000181.2:p.Leu329_Gln332del
NM_001024382.1:c.934_945del	NP_001019553.1:p.Leu312_Gln315del
NM_001258208.1:c.865_876del	NP_001245137.1:p.Leu289_Gln292del
NM_001258209.1:c.814_825del	NP_001245138.1:p.Leu272_Gln275del
XM_005271531.1:c.934_945del	XP_005271588.1:p.Leu312_Gln315del
XM_005271532.1:c.934_945del	XP_005271589.1:p.Leu312_Gln315del
XM_005271533.2:c.931_942del	XP_005271590.1:p.Leu311_Gln314del
XM_011542796.1:c.820_831del	XP_011541098.1:p.Leu274_Gln277del
NM_000190.4:c.985_996del MANE Select	NP_000181.2:p.Leu329_Gln332del
NM_001024382.2:c.934_945del	NP_001019553.1:p.Leu312_Gln315del
XM_005271533.3:c.931_942del	XP_005271590.1:p.Leu311_Gln314del
XM_017017629.1:c.934_945del	XP_016873118.1:p.Leu312_Gln315del
XM_024448460.1:c.811_822del	XP_024304228.1:p.Leu271_Gln274del
NM_001258208.2:c.865_876del	NP_001245137.1:p.Leu289_Gln292del
NM_001258209.2:c.814_825del	NP_001245138.1:p.Leu272_Gln275del