Canonical Allele Identifier: CA2695215706

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119088654_119088657del , CM000673.2:g.119088654_119088657del	GRCh38
NC_000011.9:g.118959364_118959367del , CM000673.1:g.118959364_118959367del	GRCh37
NC_000011.8:g.118464574_118464577del	NCBI36
NG_008093.1:g.8778_8781del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.-59_-56del	ENSP00000509288.1:n.-59_-56del
ENST00000686690.1:n.269_272del
ENST00000691144.1:n.1389_1392del
ENST00000691249.1:n.691_694del
ENST00000442944.7:c.107_110del	ENSP00000392041.3:p.Asp36ValfsTer6
ENST00000534956.2:n.56_59del
ENST00000536813.6:c.56_59del	ENSP00000438726.2:p.Asp19ValfsTer6
ENST00000546302.6:c.107_110del	ENSP00000445599.1:p.Asp36ValfsTer6
ENST00000640813.1:c.56_59del	ENSP00000491061.1:p.Asp19ValfsTer6
ENST00000648026.1:c.101_104del	ENSP00000498044.1:p.Asp34ValfsTer6
ENST00000648374.1:c.56_59del	ENSP00000497255.1:p.Asp19ValfsTer6
ENST00000648488.1:c.56_59del	ENSP00000498079.1:p.Asp19ValfsTer6
ENST00000649823.1:n.324_327del
ENST00000649868.1:c.34-446_34-443del	ENSP00000497548.1:n.34-446_34-443del
ENST00000650101.1:c.56_59del	ENSP00000496970.1:p.Asp19ValfsTer6
ENST00000650307.1:n.559_562del
ENST00000652429.1:c.107_110del MANE Select	ENSP00000498786.1:p.Asp36ValfsTer6
ENST00000278715.7:c.107_110del	ENSP00000278715.3:p.Asp36ValfsTer6
ENST00000392841.1:c.56_59del	ENSP00000376584.1:p.Asp19ValfsTer6
ENST00000442944.6:c.56_59del	ENSP00000392041.2:p.Asp19ValfsTer6
ENST00000534956.1:n.23_26del
ENST00000535253.5:c.56_59del	ENSP00000442079.1:p.Asp19ValfsTer6
ENST00000535793.5:c.53_56del	ENSP00000439904.1:p.Asp18ValfsTer6
ENST00000536185.5:n.275_278del
ENST00000536813.5:c.107_110del	ENSP00000438726.1:p.Asp36ValfsTer6
ENST00000537841.5:c.56_59del	ENSP00000444730.1:p.Asp19ValfsTer6
ENST00000539986.5:c.56_59del	ENSP00000440092.1:p.Asp19ValfsTer6
ENST00000542044.5:n.178_181del
ENST00000542345.5:n.245_248del
ENST00000542729.5:c.56_59del	ENSP00000443058.1:p.Asp19ValfsTer6
ENST00000542822.5:c.198_201del	ENSP00000444817.1:p.Gln67ValfsTer?
ENST00000543090.5:c.53_56del	ENSP00000445429.1:p.Asp18ValfsTer6
ENST00000543543.5:n.342_345del
ENST00000543821.5:n.253_256del
ENST00000544360.5:n.75_78del
ENST00000544387.5:c.107_110del	ENSP00000438424.1:p.Asp36ValfsTer6
ENST00000545621.5:c.107_110del	ENSP00000444849.1:p.Asp36ValfsTer6
ENST00000545901.5:n.260_263del
ENST00000546226.5:n.166_169del
ENST00000546302.5:c.107_110del	ENSP00000445599.1:p.Asp36ValfsTer6
NM_000190.3:c.107_110del	NP_000181.2:p.Asp36ValfsTer6
NM_001024382.1:c.56_59del	NP_001019553.1:p.Asp19ValfsTer6
NM_001258208.1:c.107_110del	NP_001245137.1:p.Asp36ValfsTer6
NM_001258209.1:c.56_59del	NP_001245138.1:p.Asp19ValfsTer6
XM_005271531.1:c.56_59del	XP_005271588.1:p.Asp19ValfsTer6
XM_005271532.1:c.56_59del	XP_005271589.1:p.Asp19ValfsTer6
XM_005271533.2:c.53_56del	XP_005271590.1:p.Asp18ValfsTer6
XM_011542796.1:c.-59_-56del	XP_011541098.1:n.-59_-56del
NM_000190.4:c.107_110del MANE Select	NP_000181.2:p.Asp36ValfsTer6
NM_001024382.2:c.56_59del	NP_001019553.1:p.Asp19ValfsTer6
XM_005271533.3:c.53_56del	XP_005271590.1:p.Asp18ValfsTer6
XM_017017629.1:c.56_59del	XP_016873118.1:p.Asp19ValfsTer6
XM_024448460.1:c.53_56del	XP_024304228.1:p.Asp18ValfsTer6
NM_001258208.2:c.107_110del	NP_001245137.1:p.Asp36ValfsTer6
NM_001258209.2:c.56_59del	NP_001245138.1:p.Asp19ValfsTer6