Canonical Allele Identifier: CA942780204

Gene: HMBS

Linked Data

• gnomAD v3: 11-119091949-CAGAGGCCAGACTCTAGGCTTTCATGGAGAAAATTTACAAAAAAAAAAAAAA-C
• gnomAD v4: 11-119091949-CAGAGGCCAGACTCTAGGCTTTCATGGAGAAAATTTACAAAAAAAAAAAAAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119091963_119092013del , CM000673.2:g.119091963_119092013del	GRCh38
NC_000011.9:g.118962673_118962723del , CM000673.1:g.118962673_118962723del	GRCh37
NC_000011.8:g.118467883_118467933del	NCBI36
NG_008093.1:g.12087_12137del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.448-162_448-112del	ENSP00000509288.1:n.448-162_448-112del
ENST00000691144.1:n.2354-162_2354-112del
ENST00000691249.1:n.1197-162_1197-112del
ENST00000442944.7:c.595-162_595-112del	ENSP00000392041.3:n.595-162_595-112del
ENST00000536813.6:c.562-162_562-112del	ENSP00000438726.2:n.562-162_562-112del
ENST00000546302.6:c.535-162_535-112del	ENSP00000445599.1:n.535-162_535-112del
ENST00000640813.1:c.461+89_461+139del	ENSP00000491061.1:n.461+89_461+139del
ENST00000648026.1:c.506+89_507-112del	ENSP00000498044.1:n.506+89_507-112del
ENST00000648374.1:c.562-162_562-112del	ENSP00000497255.1:n.562-162_562-112del
ENST00000648488.1:c.*86-162_*86-112del	ENSP00000498079.1:n.*86-162_*86-112del
ENST00000649823.1:n.830-162_830-112del
ENST00000650101.1:c.544-162_544-112del	ENSP00000496970.1:n.544-162_544-112del
ENST00000650307.1:n.1439-162_1439-112del
ENST00000652429.1:c.613-162_613-112del MANE Select	ENSP00000498786.1:n.613-162_613-112del
ENST00000278715.7:c.613-162_613-112del	ENSP00000278715.3:n.613-162_613-112del
ENST00000392841.1:c.562-162_562-112del	ENSP00000376584.1:n.562-162_562-112del
ENST00000442944.6:c.562-162_562-112del	ENSP00000392041.2:n.562-162_562-112del
ENST00000537841.5:c.562-162_562-112del	ENSP00000444730.1:n.562-162_562-112del
ENST00000542044.5:n.1058-162_1058-112del
ENST00000542345.5:n.751-162_751-112del
ENST00000542729.5:c.562-162_562-112del	ENSP00000443058.1:n.562-162_562-112del
ENST00000543090.5:c.558+437_559-391del	ENSP00000445429.1:n.558+437_559-391del
ENST00000543543.5:n.848-162_848-112del
ENST00000544182.1:n.426_476del
ENST00000544387.5:c.613-162_613-112del	ENSP00000438424.1:n.613-162_613-112del
ENST00000545621.5:c.*508-162_*508-112del	ENSP00000444849.1:n.*508-162_*508-112del
ENST00000546226.5:n.901-162_901-112del
ENST00000546302.5:c.535-162_535-112del	ENSP00000445599.1:n.535-162_535-112del
NM_000190.3:c.613-162_613-112del	NP_000181.2:n.613-162_613-112del
NM_001024382.1:c.562-162_562-112del	NP_001019553.1:n.562-162_562-112del
NM_001258208.1:c.613-162_613-112del	NP_001245137.1:n.613-162_613-112del
NM_001258209.1:c.562-162_562-112del	NP_001245138.1:n.562-162_562-112del
XM_005271531.1:c.562-162_562-112del	XP_005271588.1:n.562-162_562-112del
XM_005271532.1:c.562-162_562-112del	XP_005271589.1:n.562-162_562-112del
XM_005271533.2:c.559-162_559-112del	XP_005271590.1:n.559-162_559-112del
XM_011542796.1:c.448-162_448-112del	XP_011541098.1:n.448-162_448-112del
NM_000190.4:c.613-162_613-112del MANE Select	NP_000181.2:n.613-162_613-112del
NM_001024382.2:c.562-162_562-112del	NP_001019553.1:n.562-162_562-112del
XM_005271533.3:c.559-162_559-112del	XP_005271590.1:n.559-162_559-112del
XM_017017629.1:c.562-162_562-112del	XP_016873118.1:n.562-162_562-112del
XM_024448460.1:c.559-162_559-112del	XP_024304228.1:n.559-162_559-112del
NM_001258208.2:c.613-162_613-112del	NP_001245137.1:n.613-162_613-112del
NM_001258209.2:c.562-162_562-112del	NP_001245138.1:n.562-162_562-112del