Canonical Allele Identifier: CA6313860

Gene: HMBS

Linked Data

• dbSNP Id: rs782214327
• ExAC: 11:118955877 GCTAT / G
• gnomAD v4: 11-119085167-GCTAT-G
• MyVariant Identifiers: chr11:g.118955878_118955881del (hg19) ; chr11:g.119085168_119085171del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119085170_119085173del , CM000673.2:g.119085170_119085173del	GRCh38
NC_000011.9:g.118955880_118955883del , CM000673.1:g.118955880_118955883del	GRCh37
NC_000011.8:g.118461090_118461093del	NCBI36
NG_008093.1:g.5294_5297del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442944.7:c.33+104_33+107del	ENSP00000392041.3:n.33+104_33+107del
ENST00000534956.2:n.36+104_36+107del
ENST00000536813.6:c.-102+104_-102+107del	ENSP00000438726.2:n.-102+104_-102+107del
ENST00000546302.6:c.33+104_33+107del	ENSP00000445599.1:n.33+104_33+107del
ENST00000640813.1:c.-19+104_-19+107del	ENSP00000491061.1:n.-19+104_-19+107del
ENST00000648026.1:c.27+104_27+107del	ENSP00000498044.1:n.27+104_27+107del
ENST00000649868.1:c.33+104_33+107del	ENSP00000497548.1:n.33+104_33+107del
ENST00000652429.1:c.33+104_33+107del MANE Select	ENSP00000498786.1:n.33+104_33+107del
ENST00000278715.7:c.33+104_33+107del	ENSP00000278715.3:n.33+104_33+107del
ENST00000442944.6:c.-102+104_-102+107del	ENSP00000392041.2:n.-102+104_-102+107del
ENST00000535793.5:c.33+104_33+107del	ENSP00000439904.1:n.33+104_33+107del
ENST00000536185.5:n.201+104_201+107del
ENST00000536813.5:c.33+104_33+107del	ENSP00000438726.1:n.33+104_33+107del
ENST00000537841.5:c.-19+13_-19+16del	ENSP00000444730.1:n.-19+13_-19+16del
ENST00000542044.5:n.158+104_158+107del
ENST00000542729.5:c.-19+13_-19+16del	ENSP00000443058.1:n.-19+13_-19+16del
ENST00000542822.5:c.124+13_124+16del	ENSP00000444817.1:n.124+13_124+16del
ENST00000543090.5:c.33+104_33+107del	ENSP00000445429.1:n.33+104_33+107del
ENST00000543821.5:n.179+104_179+107del
ENST00000544387.5:c.33+104_33+107del	ENSP00000438424.1:n.33+104_33+107del
ENST00000545621.5:c.33+104_33+107del	ENSP00000444849.1:n.33+104_33+107del
ENST00000545901.5:n.186+104_186+107del
ENST00000546302.5:c.33+104_33+107del	ENSP00000445599.1:n.33+104_33+107del
NM_000190.3:c.33+104_33+107del	NP_000181.2:n.33+104_33+107del
NM_001258208.1:c.33+104_33+107del	NP_001245137.1:n.33+104_33+107del
NM_001258209.1:c.-19+13_-19+16del	NP_001245138.1:n.-19+13_-19+16del
XM_005271531.1:c.-19+13_-19+16del	XP_005271588.1:n.-19+13_-19+16del
XM_005271532.1:c.-19+37_-19+40del	XP_005271589.1:n.-19+37_-19+40del
XM_005271533.2:c.33+104_33+107del	XP_005271590.1:n.33+104_33+107del
NM_000190.4:c.33+104_33+107del MANE Select	NP_000181.2:n.33+104_33+107del
XM_005271533.3:c.33+104_33+107del	XP_005271590.1:n.33+104_33+107del
XM_024448460.1:c.33+104_33+107del	XP_024304228.1:n.33+104_33+107del
NM_001258208.2:c.33+104_33+107del	NP_001245137.1:n.33+104_33+107del
NM_001258209.2:c.-19+13_-19+16del	NP_001245138.1:n.-19+13_-19+16del