Canonical Allele Identifier: CA2003790286

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119091827_119091828delinsCA , CM000673.2:g.119091827_119091828delinsCA	GRCh38
NC_000011.9:g.118962537_118962538delinsCA , CM000673.1:g.118962537_118962538delinsCA	GRCh37
NC_000011.8:g.118467747_118467748delinsCA	NCBI36
NG_008093.1:g.11951_11952delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.448-298_448-297delinsCA	ENSP00000509288.1:n.448-298_448-297delinsCA
ENST00000686690.1:n.1763_1764delinsCA
ENST00000691144.1:n.2354-298_2354-297delinsCA
ENST00000691249.1:n.1197-298_1197-297delinsCA
ENST00000442944.7:c.595-298_595-297delinsCA	ENSP00000392041.3:n.595-298_595-297delinsCA
ENST00000534956.2:n.448-34_448-33delinsCA
ENST00000536813.6:c.562-298_562-297delinsCA	ENSP00000438726.2:n.562-298_562-297delinsCA
ENST00000546302.6:c.535-298_535-297delinsCA	ENSP00000445599.1:n.535-298_535-297delinsCA
ENST00000640813.1:c.448-34_448-33delinsCA	ENSP00000491061.1:n.448-34_448-33delinsCA
ENST00000648026.1:c.493-34_493-33delinsCA	ENSP00000498044.1:n.493-34_493-33delinsCA
ENST00000648374.1:c.562-298_562-297delinsCA	ENSP00000497255.1:n.562-298_562-297delinsCA
ENST00000648488.1:c.*86-298_*86-297delinsCA	ENSP00000498079.1:n.*86-298_*86-297delinsCA
ENST00000649823.1:n.830-298_830-297delinsCA
ENST00000649868.1:c.*207-34_*207-33delinsCA	ENSP00000497548.1:n.*207-34_*207-33delinsCA
ENST00000650101.1:c.544-298_544-297delinsCA	ENSP00000496970.1:n.544-298_544-297delinsCA
ENST00000650307.1:n.1439-298_1439-297delinsCA
ENST00000652429.1:c.613-298_613-297delinsCA MANE Select	ENSP00000498786.1:n.613-298_613-297delinsCA
ENST00000278715.7:c.613-298_613-297delinsCA	ENSP00000278715.3:n.613-298_613-297delinsCA
ENST00000392841.1:c.562-298_562-297delinsCA	ENSP00000376584.1:n.562-298_562-297delinsCA
ENST00000442944.6:c.562-298_562-297delinsCA	ENSP00000392041.2:n.562-298_562-297delinsCA
ENST00000534956.1:n.415-34_415-33delinsCA
ENST00000537841.5:c.562-298_562-297delinsCA	ENSP00000444730.1:n.562-298_562-297delinsCA
ENST00000542044.5:n.1058-298_1058-297delinsCA
ENST00000542345.5:n.751-298_751-297delinsCA
ENST00000542729.5:c.562-298_562-297delinsCA	ENSP00000443058.1:n.562-298_562-297delinsCA
ENST00000543090.5:c.558+301_558+302delinsCA	ENSP00000445429.1:n.558+301_558+302delinsCA
ENST00000543543.5:n.848-298_848-297delinsCA
ENST00000544182.1:n.290_291delinsCA
ENST00000544387.5:c.613-298_613-297delinsCA	ENSP00000438424.1:n.613-298_613-297delinsCA
ENST00000545621.5:c.*508-298_*508-297delinsCA	ENSP00000444849.1:n.*508-298_*508-297delinsCA
ENST00000546226.5:n.901-298_901-297delinsCA
ENST00000546302.5:c.535-298_535-297delinsCA	ENSP00000445599.1:n.535-298_535-297delinsCA
NM_000190.3:c.613-298_613-297delinsCA	NP_000181.2:n.613-298_613-297delinsCA
NM_001024382.1:c.562-298_562-297delinsCA	NP_001019553.1:n.562-298_562-297delinsCA
NM_001258208.1:c.613-298_613-297delinsCA	NP_001245137.1:n.613-298_613-297delinsCA
NM_001258209.1:c.562-298_562-297delinsCA	NP_001245138.1:n.562-298_562-297delinsCA
XM_005271531.1:c.562-298_562-297delinsCA	XP_005271588.1:n.562-298_562-297delinsCA
XM_005271532.1:c.562-298_562-297delinsCA	XP_005271589.1:n.562-298_562-297delinsCA
XM_005271533.2:c.559-298_559-297delinsCA	XP_005271590.1:n.559-298_559-297delinsCA
XM_011542796.1:c.448-298_448-297delinsCA	XP_011541098.1:n.448-298_448-297delinsCA
NM_000190.4:c.613-298_613-297delinsCA MANE Select	NP_000181.2:n.613-298_613-297delinsCA
NM_001024382.2:c.562-298_562-297delinsCA	NP_001019553.1:n.562-298_562-297delinsCA
XM_005271533.3:c.559-298_559-297delinsCA	XP_005271590.1:n.559-298_559-297delinsCA
XM_017017629.1:c.562-298_562-297delinsCA	XP_016873118.1:n.562-298_562-297delinsCA
XM_024448460.1:c.559-298_559-297delinsCA	XP_024304228.1:n.559-298_559-297delinsCA
NM_001258208.2:c.613-298_613-297delinsCA	NP_001245137.1:n.613-298_613-297delinsCA
NM_001258209.2:c.562-298_562-297delinsCA	NP_001245138.1:n.562-298_562-297delinsCA