Canonical Allele Identifier: CA2603281312

Gene: HMBS

Linked Data

• dbSNP Id: rs2134836587
• gnomAD v3: 11-119085126-GGCCCC-G
• gnomAD v4: 11-119085126-GGCCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119085127_119085131del , CM000673.2:g.119085127_119085131del	GRCh38
NC_000011.9:g.118955837_118955841del , CM000673.1:g.118955837_118955841del	GRCh37
NC_000011.8:g.118461047_118461051del	NCBI36
NG_008093.1:g.5251_5255del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442944.7:c.33+61_33+65del	ENSP00000392041.3:n.33+61_33+65del
ENST00000534956.2:n.36+61_36+65del
ENST00000536813.6:c.-102+61_-102+65del	ENSP00000438726.2:n.-102+61_-102+65del
ENST00000546302.6:c.33+61_33+65del	ENSP00000445599.1:n.33+61_33+65del
ENST00000640813.1:c.-19+61_-19+65del	ENSP00000491061.1:n.-19+61_-19+65del
ENST00000648026.1:c.27+61_27+65del	ENSP00000498044.1:n.27+61_27+65del
ENST00000649868.1:c.33+61_33+65del	ENSP00000497548.1:n.33+61_33+65del
ENST00000652429.1:c.33+61_33+65del MANE Select	ENSP00000498786.1:n.33+61_33+65del
ENST00000278715.7:c.33+61_33+65del	ENSP00000278715.3:n.33+61_33+65del
ENST00000442944.6:c.-102+61_-102+65del	ENSP00000392041.2:n.-102+61_-102+65del
ENST00000535793.5:c.33+61_33+65del	ENSP00000439904.1:n.33+61_33+65del
ENST00000536185.5:n.201+61_201+65del
ENST00000536813.5:c.33+61_33+65del	ENSP00000438726.1:n.33+61_33+65del
ENST00000537841.5:c.-49_-45del	ENSP00000444730.1:n.-49_-45del
ENST00000542044.5:n.158+61_158+65del
ENST00000542729.5:c.-49_-45del	ENSP00000443058.1:n.-49_-45del
ENST00000542822.5:c.94_98del	ENSP00000444817.1:p.Ala32ArgfsTer16
ENST00000543090.5:c.33+61_33+65del	ENSP00000445429.1:n.33+61_33+65del
ENST00000543821.5:n.179+61_179+65del
ENST00000544387.5:c.33+61_33+65del	ENSP00000438424.1:n.33+61_33+65del
ENST00000545621.5:c.33+61_33+65del	ENSP00000444849.1:n.33+61_33+65del
ENST00000545901.5:n.186+61_186+65del
ENST00000546302.5:c.33+61_33+65del	ENSP00000445599.1:n.33+61_33+65del
NM_000190.3:c.33+61_33+65del	NP_000181.2:n.33+61_33+65del
NM_001258208.1:c.33+61_33+65del	NP_001245137.1:n.33+61_33+65del
NM_001258209.1:c.-49_-45del	NP_001245138.1:n.-49_-45del
XM_005271531.1:c.-49_-45del	XP_005271588.1:n.-49_-45del
XM_005271532.1:c.-25_-21del	XP_005271589.1:n.-25_-21del
XM_005271533.2:c.33+61_33+65del	XP_005271590.1:n.33+61_33+65del
NM_000190.4:c.33+61_33+65del MANE Select	NP_000181.2:n.33+61_33+65del
XM_005271533.3:c.33+61_33+65del	XP_005271590.1:n.33+61_33+65del
XM_024448460.1:c.33+61_33+65del	XP_024304228.1:n.33+61_33+65del
NM_001258208.2:c.33+61_33+65del	NP_001245137.1:n.33+61_33+65del
NM_001258209.2:c.-49_-45del	NP_001245138.1:n.-49_-45del