Canonical Allele Identifier: CA2003790123

Gene: HMBS

Linked Data

• dbSNP Id: rs1946263520
• gnomAD v4: 11-119091699-TCATTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119091703_119091707del , CM000673.2:g.119091703_119091707del	GRCh38
NC_000011.9:g.118962413_118962417del , CM000673.1:g.118962413_118962417del	GRCh37
NC_000011.8:g.118467623_118467627del	NCBI36
NG_008093.1:g.11827_11831del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.447+177_447+181del	ENSP00000509288.1:n.447+177_447+181del
ENST00000686690.1:n.1639_1643del
ENST00000691144.1:n.2353+177_2353+181del
ENST00000691249.1:n.1196+177_1196+181del
ENST00000442944.7:c.594+177_594+181del	ENSP00000392041.3:n.594+177_594+181del
ENST00000534956.2:n.448-158_448-154del
ENST00000536813.6:c.561+177_561+181del	ENSP00000438726.2:n.561+177_561+181del
ENST00000546302.6:c.534+177_534+181del	ENSP00000445599.1:n.534+177_534+181del
ENST00000640813.1:c.448-158_448-154del	ENSP00000491061.1:n.448-158_448-154del
ENST00000648026.1:c.493-158_493-154del	ENSP00000498044.1:n.493-158_493-154del
ENST00000648374.1:c.561+177_561+181del	ENSP00000497255.1:n.561+177_561+181del
ENST00000648488.1:c.*86-422_*86-418del	ENSP00000498079.1:n.*86-422_*86-418del
ENST00000649823.1:n.829+177_829+181del
ENST00000649868.1:c.*207-158_*207-154del	ENSP00000497548.1:n.*207-158_*207-154del
ENST00000650101.1:c.543+177_543+181del	ENSP00000496970.1:n.543+177_543+181del
ENST00000650307.1:n.1438+177_1438+181del
ENST00000652429.1:c.612+177_612+181del MANE Select	ENSP00000498786.1:n.612+177_612+181del
ENST00000278715.7:c.612+177_612+181del	ENSP00000278715.3:n.612+177_612+181del
ENST00000392841.1:c.561+177_561+181del	ENSP00000376584.1:n.561+177_561+181del
ENST00000442944.6:c.561+177_561+181del	ENSP00000392041.2:n.561+177_561+181del
ENST00000534956.1:n.415-158_415-154del
ENST00000537841.5:c.561+177_561+181del	ENSP00000444730.1:n.561+177_561+181del
ENST00000542044.5:n.1057+177_1057+181del
ENST00000542345.5:n.750+177_750+181del
ENST00000542729.5:c.561+177_561+181del	ENSP00000443058.1:n.561+177_561+181del
ENST00000543090.5:c.558+177_558+181del	ENSP00000445429.1:n.558+177_558+181del
ENST00000543543.5:n.847+177_847+181del
ENST00000544182.1:n.166_170del
ENST00000544387.5:c.612+177_612+181del	ENSP00000438424.1:n.612+177_612+181del
ENST00000545621.5:c.*507+177_*507+181del	ENSP00000444849.1:n.*507+177_*507+181del
ENST00000546226.5:n.900+177_900+181del
ENST00000546302.5:c.534+177_534+181del	ENSP00000445599.1:n.534+177_534+181del
NM_000190.3:c.612+177_612+181del	NP_000181.2:n.612+177_612+181del
NM_001024382.1:c.561+177_561+181del	NP_001019553.1:n.561+177_561+181del
NM_001258208.1:c.612+177_612+181del	NP_001245137.1:n.612+177_612+181del
NM_001258209.1:c.561+177_561+181del	NP_001245138.1:n.561+177_561+181del
XM_005271531.1:c.561+177_561+181del	XP_005271588.1:n.561+177_561+181del
XM_005271532.1:c.561+177_561+181del	XP_005271589.1:n.561+177_561+181del
XM_005271533.2:c.558+177_558+181del	XP_005271590.1:n.558+177_558+181del
XM_011542796.1:c.447+177_447+181del	XP_011541098.1:n.447+177_447+181del
NM_000190.4:c.612+177_612+181del MANE Select	NP_000181.2:n.612+177_612+181del
NM_001024382.2:c.561+177_561+181del	NP_001019553.1:n.561+177_561+181del
XM_005271533.3:c.558+177_558+181del	XP_005271590.1:n.558+177_558+181del
XM_017017629.1:c.561+177_561+181del	XP_016873118.1:n.561+177_561+181del
XM_024448460.1:c.558+177_558+181del	XP_024304228.1:n.558+177_558+181del
NM_001258208.2:c.612+177_612+181del	NP_001245137.1:n.612+177_612+181del
NM_001258209.2:c.561+177_561+181del	NP_001245138.1:n.561+177_561+181del