Canonical Allele Identifier: CA2695215744

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119089696_119089698del , CM000673.2:g.119089696_119089698del	GRCh38
NC_000011.9:g.118960406_118960408del , CM000673.1:g.118960406_118960408del	GRCh37
NC_000011.8:g.118465616_118465618del	NCBI36
NG_008093.1:g.9820_9822del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.115_117del	ENSP00000509288.1:p.Val39del
ENST00000686690.1:n.901_903del
ENST00000691144.1:n.2021_2023del
ENST00000691249.1:n.864_866del
ENST00000442944.7:c.262_264del	ENSP00000392041.3:p.Val88del
ENST00000534956.2:n.229_231del
ENST00000536813.6:c.229_231del	ENSP00000438726.2:p.Val77del
ENST00000546302.6:c.267-294_267-292del	ENSP00000445599.1:n.267-294_267-292del
ENST00000640813.1:c.229_231del	ENSP00000491061.1:p.Val77del
ENST00000648026.1:c.274_276del	ENSP00000498044.1:p.Val92del
ENST00000648374.1:c.229_231del	ENSP00000497255.1:p.Val77del
ENST00000648488.1:c.229_231del	ENSP00000498079.1:p.Val77del
ENST00000649823.1:n.497_499del
ENST00000649868.1:c.135_137del	ENSP00000497548.1:p.Leu45del
ENST00000650101.1:c.211_213del	ENSP00000496970.1:p.Val71del
ENST00000650307.1:n.1106_1108del
ENST00000652429.1:c.280_282del MANE Select	ENSP00000498786.1:p.Val94del
ENST00000278715.7:c.280_282del	ENSP00000278715.3:p.Val94del
ENST00000392841.1:c.229_231del	ENSP00000376584.1:p.Val77del
ENST00000442944.6:c.229_231del	ENSP00000392041.2:p.Val77del
ENST00000534956.1:n.196_198del
ENST00000535253.5:c.229_231del	ENSP00000442079.1:p.Val77del
ENST00000535793.5:c.*175_*177del	ENSP00000439904.1:n.*175_*177del
ENST00000536185.5:n.398_400del
ENST00000536813.5:c.262_264del	ENSP00000438726.1:p.Val88del
ENST00000537841.5:c.229_231del	ENSP00000444730.1:p.Val77del
ENST00000539986.5:c.229_231del	ENSP00000440092.1:p.Val77del
ENST00000542044.5:n.725_727del
ENST00000542345.5:n.418_420del
ENST00000542729.5:c.229_231del	ENSP00000443058.1:p.Val77del
ENST00000542822.5:c.*216_*218del	ENSP00000444817.1:n.*216_*218del
ENST00000543090.5:c.226_228del	ENSP00000445429.1:p.Val76del
ENST00000543543.5:n.515_517del
ENST00000543821.5:n.426_428del
ENST00000544360.5:n.248_250del
ENST00000544387.5:c.280_282del	ENSP00000438424.1:p.Val94del
ENST00000545621.5:c.*175_*177del	ENSP00000444849.1:n.*175_*177del
ENST00000546226.5:n.339_341del
ENST00000546302.5:c.267-294_267-292del	ENSP00000445599.1:n.267-294_267-292del
NM_000190.3:c.280_282del	NP_000181.2:p.Val94del
NM_001024382.1:c.229_231del	NP_001019553.1:p.Val77del
NM_001258208.1:c.280_282del	NP_001245137.1:p.Val94del
NM_001258209.1:c.229_231del	NP_001245138.1:p.Val77del
XM_005271531.1:c.229_231del	XP_005271588.1:p.Val77del
XM_005271532.1:c.229_231del	XP_005271589.1:p.Val77del
XM_005271533.2:c.226_228del	XP_005271590.1:p.Val76del
XM_011542796.1:c.115_117del	XP_011541098.1:p.Val39del
NM_000190.4:c.280_282del MANE Select	NP_000181.2:p.Val94del
NM_001024382.2:c.229_231del	NP_001019553.1:p.Val77del
XM_005271533.3:c.226_228del	XP_005271590.1:p.Val76del
XM_017017629.1:c.229_231del	XP_016873118.1:p.Val77del
XM_024448460.1:c.226_228del	XP_024304228.1:p.Val76del
NM_001258208.2:c.280_282del	NP_001245137.1:p.Val94del
NM_001258209.2:c.229_231del	NP_001245138.1:p.Val77del