Canonical Allele Identifier: CA2616352553

Gene: HMBS

Linked Data

• gnomAD v4: 11-119084966-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119084971del , CM000673.2:g.119084971del	GRCh38
NC_000011.9:g.118955681del , CM000673.1:g.118955681del	GRCh37
NC_000011.8:g.118460891del	NCBI36
NG_008093.1:g.5095del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442944.7:c.-63del	ENSP00000392041.3:n.-63del
ENST00000536813.6:c.-197del	ENSP00000438726.2:n.-197del
ENST00000546302.6:c.-63del	ENSP00000445599.1:n.-63del
ENST00000640813.1:c.-114del	ENSP00000491061.1:n.-114del
ENST00000652429.1:c.-63del MANE Select	ENSP00000498786.1:n.-63del
ENST00000278715.7:c.-63del	ENSP00000278715.3:n.-63del
ENST00000442944.6:c.-197del	ENSP00000392041.2:n.-197del
ENST00000535793.5:c.-63del	ENSP00000439904.1:n.-63del
ENST00000536185.5:n.106del
ENST00000536813.5:c.-63del	ENSP00000438726.1:n.-63del
ENST00000537841.5:c.-205del	ENSP00000444730.1:n.-205del
ENST00000542044.5:n.63del
ENST00000542729.5:c.-205del	ENSP00000443058.1:n.-205del
ENST00000542822.5:c.-63del	ENSP00000444817.1:n.-63del
ENST00000543090.5:c.-63del	ENSP00000445429.1:n.-63del
ENST00000543821.5:n.84del
ENST00000544387.5:c.-63del	ENSP00000438424.1:n.-63del
ENST00000545621.5:c.-63del	ENSP00000444849.1:n.-63del
ENST00000545901.5:n.91del
ENST00000546302.5:c.-63del	ENSP00000445599.1:n.-63del
NM_000190.3:c.-63del	NP_000181.2:n.-63del
NM_001258208.1:c.-63del	NP_001245137.1:n.-63del
NM_001258209.1:c.-205del	NP_001245138.1:n.-205del
XM_005271531.1:c.-205del	XP_005271588.1:n.-205del
XM_005271532.1:c.-181del	XP_005271589.1:n.-181del
XM_005271533.2:c.-63del	XP_005271590.1:n.-63del
NM_000190.4:c.-63del MANE Select	NP_000181.2:n.-63del
XM_005271533.3:c.-63del	XP_005271590.1:n.-63del
XM_024448460.1:c.-63del	XP_024304228.1:n.-63del
NM_001258208.2:c.-63del	NP_001245137.1:n.-63del
NM_001258209.2:c.-205del	NP_001245138.1:n.-205del