Canonical Allele Identifier: CA2575084797

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119089741_119089742del , CM000673.2:g.119089741_119089742del	GRCh38
NC_000011.9:g.118960451_118960452del , CM000673.1:g.118960451_118960452del	GRCh37
NC_000011.8:g.118465661_118465662del	NCBI36
NG_008093.1:g.9865_9866del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.160_161del	ENSP00000509288.1:p.Thr54HisfsTer12
ENST00000686690.1:n.946_947del
ENST00000691144.1:n.2066_2067del
ENST00000691249.1:n.909_910del
ENST00000442944.7:c.307_308del	ENSP00000392041.3:p.Thr103HisfsTer12
ENST00000534956.2:n.274_275del
ENST00000536813.6:c.274_275del	ENSP00000438726.2:p.Thr92HisfsTer12
ENST00000546302.6:c.267-249_267-248del	ENSP00000445599.1:n.267-249_267-248del
ENST00000640813.1:c.274_275del	ENSP00000491061.1:p.Thr92HisfsTer12
ENST00000648026.1:c.319_320del	ENSP00000498044.1:p.Thr107HisfsTer12
ENST00000648374.1:c.274_275del	ENSP00000497255.1:p.Thr92HisfsTer12
ENST00000648488.1:c.274_275del	ENSP00000498079.1:p.Thr92HisfsTer12
ENST00000649823.1:n.542_543del
ENST00000649868.1:c.*33_*34del	ENSP00000497548.1:n.*33_*34del
ENST00000650101.1:c.256_257del	ENSP00000496970.1:p.Thr86HisfsTer12
ENST00000650307.1:n.1151_1152del
ENST00000652429.1:c.325_326del MANE Select	ENSP00000498786.1:p.Thr109HisfsTer12
ENST00000278715.7:c.325_326del	ENSP00000278715.3:p.Thr109HisfsTer12
ENST00000392841.1:c.274_275del	ENSP00000376584.1:p.Thr92HisfsTer12
ENST00000442944.6:c.274_275del	ENSP00000392041.2:p.Thr92HisfsTer12
ENST00000534956.1:n.241_242del
ENST00000535253.5:c.274_275del	ENSP00000442079.1:p.Thr92HisfsTer12
ENST00000535793.5:c.*220_*221del	ENSP00000439904.1:n.*220_*221del
ENST00000536813.5:c.307_308del	ENSP00000438726.1:p.Thr103HisfsTer12
ENST00000537841.5:c.274_275del	ENSP00000444730.1:p.Thr92HisfsTer12
ENST00000539986.5:c.274_275del	ENSP00000440092.1:p.Thr92HisfsTer12
ENST00000542044.5:n.770_771del
ENST00000542345.5:n.463_464del
ENST00000542729.5:c.274_275del	ENSP00000443058.1:p.Thr92HisfsTer12
ENST00000542822.5:c.*261_*262del	ENSP00000444817.1:n.*261_*262del
ENST00000543090.5:c.271_272del	ENSP00000445429.1:p.Thr91HisfsTer12
ENST00000543543.5:n.560_561del
ENST00000543821.5:n.471_472del
ENST00000544360.5:n.293_294del
ENST00000544387.5:c.325_326del	ENSP00000438424.1:p.Thr109HisfsTer12
ENST00000545621.5:c.*220_*221del	ENSP00000444849.1:n.*220_*221del
ENST00000546226.5:n.384_385del
ENST00000546302.5:c.267-249_267-248del	ENSP00000445599.1:n.267-249_267-248del
NM_000190.3:c.325_326del	NP_000181.2:p.Thr109HisfsTer12
NM_001024382.1:c.274_275del	NP_001019553.1:p.Thr92HisfsTer12
NM_001258208.1:c.325_326del	NP_001245137.1:p.Thr109HisfsTer12
NM_001258209.1:c.274_275del	NP_001245138.1:p.Thr92HisfsTer12
XM_005271531.1:c.274_275del	XP_005271588.1:p.Thr92HisfsTer12
XM_005271532.1:c.274_275del	XP_005271589.1:p.Thr92HisfsTer12
XM_005271533.2:c.271_272del	XP_005271590.1:p.Thr91HisfsTer12
XM_011542796.1:c.160_161del	XP_011541098.1:p.Thr54HisfsTer12
NM_000190.4:c.325_326del MANE Select	NP_000181.2:p.Thr109HisfsTer12
NM_001024382.2:c.274_275del	NP_001019553.1:p.Thr92HisfsTer12
XM_005271533.3:c.271_272del	XP_005271590.1:p.Thr91HisfsTer12
XM_017017629.1:c.274_275del	XP_016873118.1:p.Thr92HisfsTer12
XM_024448460.1:c.271_272del	XP_024304228.1:p.Thr91HisfsTer12
NM_001258208.2:c.325_326del	NP_001245137.1:p.Thr109HisfsTer12
NM_001258209.2:c.274_275del	NP_001245138.1:p.Thr92HisfsTer12