Canonical Allele Identifier: CA2616354234

Gene: HMBS

Linked Data

• gnomAD v4: 11-119091768-G-GGCTA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119091769_119091772dup , CM000673.2:g.119091769_119091772dup	GRCh38
NC_000011.9:g.118962479_118962482dup , CM000673.1:g.118962479_118962482dup	GRCh37
NC_000011.8:g.118467689_118467692dup	NCBI36
NG_008093.1:g.11893_11896dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.447+243_447+246dup	ENSP00000509288.1:n.447+243_447+246dup
ENST00000686690.1:n.1705_1708dup
ENST00000691144.1:n.2353+243_2353+246dup
ENST00000691249.1:n.1196+243_1196+246dup
ENST00000442944.7:c.594+243_594+246dup	ENSP00000392041.3:n.594+243_594+246dup
ENST00000534956.2:n.448-92_448-89dup
ENST00000536813.6:c.561+243_561+246dup	ENSP00000438726.2:n.561+243_561+246dup
ENST00000546302.6:c.534+243_534+246dup	ENSP00000445599.1:n.534+243_534+246dup
ENST00000640813.1:c.448-92_448-89dup	ENSP00000491061.1:n.448-92_448-89dup
ENST00000648026.1:c.493-92_493-89dup	ENSP00000498044.1:n.493-92_493-89dup
ENST00000648374.1:c.561+243_561+246dup	ENSP00000497255.1:n.561+243_561+246dup
ENST00000648488.1:c.*86-356_*86-353dup	ENSP00000498079.1:n.*86-356_*86-353dup
ENST00000649823.1:n.829+243_829+246dup
ENST00000649868.1:c.*207-92_*207-89dup	ENSP00000497548.1:n.*207-92_*207-89dup
ENST00000650101.1:c.543+243_543+246dup	ENSP00000496970.1:n.543+243_543+246dup
ENST00000650307.1:n.1438+243_1438+246dup
ENST00000652429.1:c.612+243_612+246dup MANE Select	ENSP00000498786.1:n.612+243_612+246dup
ENST00000278715.7:c.612+243_612+246dup	ENSP00000278715.3:n.612+243_612+246dup
ENST00000392841.1:c.561+243_561+246dup	ENSP00000376584.1:n.561+243_561+246dup
ENST00000442944.6:c.561+243_561+246dup	ENSP00000392041.2:n.561+243_561+246dup
ENST00000534956.1:n.415-92_415-89dup
ENST00000537841.5:c.561+243_561+246dup	ENSP00000444730.1:n.561+243_561+246dup
ENST00000542044.5:n.1057+243_1057+246dup
ENST00000542345.5:n.750+243_750+246dup
ENST00000542729.5:c.561+243_561+246dup	ENSP00000443058.1:n.561+243_561+246dup
ENST00000543090.5:c.558+243_558+246dup	ENSP00000445429.1:n.558+243_558+246dup
ENST00000543543.5:n.847+243_847+246dup
ENST00000544182.1:n.232_235dup
ENST00000544387.5:c.612+243_612+246dup	ENSP00000438424.1:n.612+243_612+246dup
ENST00000545621.5:c.*507+243_*507+246dup	ENSP00000444849.1:n.*507+243_*507+246dup
ENST00000546226.5:n.900+243_900+246dup
ENST00000546302.5:c.534+243_534+246dup	ENSP00000445599.1:n.534+243_534+246dup
NM_000190.3:c.612+243_612+246dup	NP_000181.2:n.612+243_612+246dup
NM_001024382.1:c.561+243_561+246dup	NP_001019553.1:n.561+243_561+246dup
NM_001258208.1:c.612+243_612+246dup	NP_001245137.1:n.612+243_612+246dup
NM_001258209.1:c.561+243_561+246dup	NP_001245138.1:n.561+243_561+246dup
XM_005271531.1:c.561+243_561+246dup	XP_005271588.1:n.561+243_561+246dup
XM_005271532.1:c.561+243_561+246dup	XP_005271589.1:n.561+243_561+246dup
XM_005271533.2:c.558+243_558+246dup	XP_005271590.1:n.558+243_558+246dup
XM_011542796.1:c.447+243_447+246dup	XP_011541098.1:n.447+243_447+246dup
NM_000190.4:c.612+243_612+246dup MANE Select	NP_000181.2:n.612+243_612+246dup
NM_001024382.2:c.561+243_561+246dup	NP_001019553.1:n.561+243_561+246dup
XM_005271533.3:c.558+243_558+246dup	XP_005271590.1:n.558+243_558+246dup
XM_017017629.1:c.561+243_561+246dup	XP_016873118.1:n.561+243_561+246dup
XM_024448460.1:c.558+243_558+246dup	XP_024304228.1:n.558+243_558+246dup
NM_001258208.2:c.612+243_612+246dup	NP_001245137.1:n.612+243_612+246dup
NM_001258209.2:c.561+243_561+246dup	NP_001245138.1:n.561+243_561+246dup