Canonical Allele Identifier: CA2003790562

Gene: HMBS

Linked Data

• dbSNP Id: rs1946273892

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092012_119092015dup , CM000673.2:g.119092012_119092015dup	GRCh38
NC_000011.9:g.118962722_118962725dup , CM000673.1:g.118962722_118962725dup	GRCh37
NC_000011.8:g.118467932_118467935dup	NCBI36
NG_008093.1:g.12136_12139dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.448-113_448-110dup	ENSP00000509288.1:n.448-113_448-110dup
ENST00000691144.1:n.2354-113_2354-110dup
ENST00000691249.1:n.1197-113_1197-110dup
ENST00000442944.7:c.595-113_595-110dup	ENSP00000392041.3:n.595-113_595-110dup
ENST00000536813.6:c.562-113_562-110dup	ENSP00000438726.2:n.562-113_562-110dup
ENST00000546302.6:c.535-113_535-110dup	ENSP00000445599.1:n.535-113_535-110dup
ENST00000640813.1:c.461+138_461+141dup	ENSP00000491061.1:n.461+138_461+141dup
ENST00000648026.1:c.507-113_507-110dup	ENSP00000498044.1:n.507-113_507-110dup
ENST00000648374.1:c.562-113_562-110dup	ENSP00000497255.1:n.562-113_562-110dup
ENST00000648488.1:c.*86-113_*86-110dup	ENSP00000498079.1:n.*86-113_*86-110dup
ENST00000649823.1:n.830-113_830-110dup
ENST00000650101.1:c.544-113_544-110dup	ENSP00000496970.1:n.544-113_544-110dup
ENST00000650307.1:n.1439-113_1439-110dup
ENST00000652429.1:c.613-113_613-110dup MANE Select	ENSP00000498786.1:n.613-113_613-110dup
ENST00000278715.7:c.613-113_613-110dup	ENSP00000278715.3:n.613-113_613-110dup
ENST00000392841.1:c.562-113_562-110dup	ENSP00000376584.1:n.562-113_562-110dup
ENST00000442944.6:c.562-113_562-110dup	ENSP00000392041.2:n.562-113_562-110dup
ENST00000537841.5:c.562-113_562-110dup	ENSP00000444730.1:n.562-113_562-110dup
ENST00000542044.5:n.1058-113_1058-110dup
ENST00000542345.5:n.751-113_751-110dup
ENST00000542729.5:c.562-113_562-110dup	ENSP00000443058.1:n.562-113_562-110dup
ENST00000543090.5:c.559-392_559-389dup	ENSP00000445429.1:n.559-392_559-389dup
ENST00000543543.5:n.848-113_848-110dup
ENST00000544182.1:n.475_478dup
ENST00000544387.5:c.613-113_613-110dup	ENSP00000438424.1:n.613-113_613-110dup
ENST00000545621.5:c.*508-113_*508-110dup	ENSP00000444849.1:n.*508-113_*508-110dup
ENST00000546226.5:n.901-113_901-110dup
ENST00000546302.5:c.535-113_535-110dup	ENSP00000445599.1:n.535-113_535-110dup
NM_000190.3:c.613-113_613-110dup	NP_000181.2:n.613-113_613-110dup
NM_001024382.1:c.562-113_562-110dup	NP_001019553.1:n.562-113_562-110dup
NM_001258208.1:c.613-113_613-110dup	NP_001245137.1:n.613-113_613-110dup
NM_001258209.1:c.562-113_562-110dup	NP_001245138.1:n.562-113_562-110dup
XM_005271531.1:c.562-113_562-110dup	XP_005271588.1:n.562-113_562-110dup
XM_005271532.1:c.562-113_562-110dup	XP_005271589.1:n.562-113_562-110dup
XM_005271533.2:c.559-113_559-110dup	XP_005271590.1:n.559-113_559-110dup
XM_011542796.1:c.448-113_448-110dup	XP_011541098.1:n.448-113_448-110dup
NM_000190.4:c.613-113_613-110dup MANE Select	NP_000181.2:n.613-113_613-110dup
NM_001024382.2:c.562-113_562-110dup	NP_001019553.1:n.562-113_562-110dup
XM_005271533.3:c.559-113_559-110dup	XP_005271590.1:n.559-113_559-110dup
XM_017017629.1:c.562-113_562-110dup	XP_016873118.1:n.562-113_562-110dup
XM_024448460.1:c.559-113_559-110dup	XP_024304228.1:n.559-113_559-110dup
NM_001258208.2:c.613-113_613-110dup	NP_001245137.1:n.613-113_613-110dup
NM_001258209.2:c.562-113_562-110dup	NP_001245138.1:n.562-113_562-110dup