Canonical Allele Identifier: CA2616354447

Gene: HMBS

Linked Data

• dbSNP Id: rs111268492
• gnomAD v4: 11-119091986-CAAAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119091998_119092001del , CM000673.2:g.119091998_119092001del	GRCh38
NC_000011.9:g.118962708_118962711del , CM000673.1:g.118962708_118962711del	GRCh37
NC_000011.8:g.118467918_118467921del	NCBI36
NG_008093.1:g.12122_12125del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.448-127_448-124del	ENSP00000509288.1:n.448-127_448-124del
ENST00000691144.1:n.2354-127_2354-124del
ENST00000691249.1:n.1197-127_1197-124del
ENST00000442944.7:c.595-127_595-124del	ENSP00000392041.3:n.595-127_595-124del
ENST00000536813.6:c.562-127_562-124del	ENSP00000438726.2:n.562-127_562-124del
ENST00000546302.6:c.535-127_535-124del	ENSP00000445599.1:n.535-127_535-124del
ENST00000640813.1:c.461+124_461+127del	ENSP00000491061.1:n.461+124_461+127del
ENST00000648026.1:c.506+124_507-124del	ENSP00000498044.1:n.506+124_507-124del
ENST00000648374.1:c.562-127_562-124del	ENSP00000497255.1:n.562-127_562-124del
ENST00000648488.1:c.*86-127_*86-124del	ENSP00000498079.1:n.*86-127_*86-124del
ENST00000649823.1:n.830-127_830-124del
ENST00000649868.1:c.*344_*347del	ENSP00000497548.1:n.*344_*347del
ENST00000650101.1:c.544-127_544-124del	ENSP00000496970.1:n.544-127_544-124del
ENST00000650307.1:n.1439-127_1439-124del
ENST00000652429.1:c.613-127_613-124del MANE Select	ENSP00000498786.1:n.613-127_613-124del
ENST00000278715.7:c.613-127_613-124del	ENSP00000278715.3:n.613-127_613-124del
ENST00000392841.1:c.562-127_562-124del	ENSP00000376584.1:n.562-127_562-124del
ENST00000442944.6:c.562-127_562-124del	ENSP00000392041.2:n.562-127_562-124del
ENST00000537841.5:c.562-127_562-124del	ENSP00000444730.1:n.562-127_562-124del
ENST00000542044.5:n.1058-127_1058-124del
ENST00000542345.5:n.751-127_751-124del
ENST00000542729.5:c.562-127_562-124del	ENSP00000443058.1:n.562-127_562-124del
ENST00000543090.5:c.559-406_559-403del	ENSP00000445429.1:n.559-406_559-403del
ENST00000543543.5:n.848-127_848-124del
ENST00000544182.1:n.461_464del
ENST00000544387.5:c.613-127_613-124del	ENSP00000438424.1:n.613-127_613-124del
ENST00000545621.5:c.*508-127_*508-124del	ENSP00000444849.1:n.*508-127_*508-124del
ENST00000546226.5:n.901-127_901-124del
ENST00000546302.5:c.535-127_535-124del	ENSP00000445599.1:n.535-127_535-124del
NM_000190.3:c.613-127_613-124del	NP_000181.2:n.613-127_613-124del
NM_001024382.1:c.562-127_562-124del	NP_001019553.1:n.562-127_562-124del
NM_001258208.1:c.613-127_613-124del	NP_001245137.1:n.613-127_613-124del
NM_001258209.1:c.562-127_562-124del	NP_001245138.1:n.562-127_562-124del
XM_005271531.1:c.562-127_562-124del	XP_005271588.1:n.562-127_562-124del
XM_005271532.1:c.562-127_562-124del	XP_005271589.1:n.562-127_562-124del
XM_005271533.2:c.559-127_559-124del	XP_005271590.1:n.559-127_559-124del
XM_011542796.1:c.448-127_448-124del	XP_011541098.1:n.448-127_448-124del
NM_000190.4:c.613-127_613-124del MANE Select	NP_000181.2:n.613-127_613-124del
NM_001024382.2:c.562-127_562-124del	NP_001019553.1:n.562-127_562-124del
XM_005271533.3:c.559-127_559-124del	XP_005271590.1:n.559-127_559-124del
XM_017017629.1:c.562-127_562-124del	XP_016873118.1:n.562-127_562-124del
XM_024448460.1:c.559-127_559-124del	XP_024304228.1:n.559-127_559-124del
NM_001258208.2:c.613-127_613-124del	NP_001245137.1:n.613-127_613-124del
NM_001258209.2:c.562-127_562-124del	NP_001245138.1:n.562-127_562-124del