Canonical Allele Identifier: CA2003790658

Gene: HMBS

Linked Data

• dbSNP Id: rs1946277740

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092061_119092064del , CM000673.2:g.119092061_119092064del	GRCh38
NC_000011.9:g.118962771_118962774del , CM000673.1:g.118962771_118962774del	GRCh37
NC_000011.8:g.118467981_118467984del	NCBI36
NG_008093.1:g.12185_12188del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.448-64_448-61del	ENSP00000509288.1:n.448-64_448-61del
ENST00000691144.1:n.2354-64_2354-61del
ENST00000691249.1:n.1197-64_1197-61del
ENST00000442944.7:c.595-64_595-61del	ENSP00000392041.3:n.595-64_595-61del
ENST00000536813.6:c.562-64_562-61del	ENSP00000438726.2:n.562-64_562-61del
ENST00000546302.6:c.535-64_535-61del	ENSP00000445599.1:n.535-64_535-61del
ENST00000640813.1:c.461+187_461+190del	ENSP00000491061.1:n.461+187_461+190del
ENST00000648026.1:c.507-64_507-61del	ENSP00000498044.1:n.507-64_507-61del
ENST00000648374.1:c.562-64_562-61del	ENSP00000497255.1:n.562-64_562-61del
ENST00000648488.1:c.*86-64_*86-61del	ENSP00000498079.1:n.*86-64_*86-61del
ENST00000649823.1:n.830-64_830-61del
ENST00000650101.1:c.544-64_544-61del	ENSP00000496970.1:n.544-64_544-61del
ENST00000650307.1:n.1439-64_1439-61del
ENST00000652429.1:c.613-64_613-61del MANE Select	ENSP00000498786.1:n.613-64_613-61del
ENST00000278715.7:c.613-64_613-61del	ENSP00000278715.3:n.613-64_613-61del
ENST00000392841.1:c.562-64_562-61del	ENSP00000376584.1:n.562-64_562-61del
ENST00000442944.6:c.562-64_562-61del	ENSP00000392041.2:n.562-64_562-61del
ENST00000537841.5:c.562-64_562-61del	ENSP00000444730.1:n.562-64_562-61del
ENST00000542044.5:n.1058-64_1058-61del
ENST00000542345.5:n.751-64_751-61del
ENST00000542729.5:c.562-64_562-61del	ENSP00000443058.1:n.562-64_562-61del
ENST00000543090.5:c.559-343_559-340del	ENSP00000445429.1:n.559-343_559-340del
ENST00000543543.5:n.848-64_848-61del
ENST00000544182.1:n.524_527del
ENST00000544387.5:c.613-64_613-61del	ENSP00000438424.1:n.613-64_613-61del
ENST00000545621.5:c.*508-64_*508-61del	ENSP00000444849.1:n.*508-64_*508-61del
ENST00000546226.5:n.901-64_901-61del
ENST00000546302.5:c.535-64_535-61del	ENSP00000445599.1:n.535-64_535-61del
NM_000190.3:c.613-64_613-61del	NP_000181.2:n.613-64_613-61del
NM_001024382.1:c.562-64_562-61del	NP_001019553.1:n.562-64_562-61del
NM_001258208.1:c.613-64_613-61del	NP_001245137.1:n.613-64_613-61del
NM_001258209.1:c.562-64_562-61del	NP_001245138.1:n.562-64_562-61del
XM_005271531.1:c.562-64_562-61del	XP_005271588.1:n.562-64_562-61del
XM_005271532.1:c.562-64_562-61del	XP_005271589.1:n.562-64_562-61del
XM_005271533.2:c.559-64_559-61del	XP_005271590.1:n.559-64_559-61del
XM_011542796.1:c.448-64_448-61del	XP_011541098.1:n.448-64_448-61del
NM_000190.4:c.613-64_613-61del MANE Select	NP_000181.2:n.613-64_613-61del
NM_001024382.2:c.562-64_562-61del	NP_001019553.1:n.562-64_562-61del
XM_005271533.3:c.559-64_559-61del	XP_005271590.1:n.559-64_559-61del
XM_017017629.1:c.562-64_562-61del	XP_016873118.1:n.562-64_562-61del
XM_024448460.1:c.559-64_559-61del	XP_024304228.1:n.559-64_559-61del
NM_001258208.2:c.613-64_613-61del	NP_001245137.1:n.613-64_613-61del
NM_001258209.2:c.562-64_562-61del	NP_001245138.1:n.562-64_562-61del