Canonical Allele Identifier: CA942777957

Gene: HMBS

Linked Data

• dbSNP Id: rs1946032950
• gnomAD v3: 11-119085296-ATTGT-A
• gnomAD v4: 11-119085296-ATTGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119085300_119085303del , CM000673.2:g.119085300_119085303del	GRCh38
NC_000011.9:g.118956010_118956013del , CM000673.1:g.118956010_118956013del	GRCh37
NC_000011.8:g.118461220_118461223del	NCBI36
NG_008093.1:g.5424_5427del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.-672_-669del	ENSP00000509288.1:n.-672_-669del
ENST00000691249.1:n.78_81del
ENST00000442944.7:c.33+234_33+237del	ENSP00000392041.3:n.33+234_33+237del
ENST00000534956.2:n.36+234_36+237del
ENST00000536813.6:c.-102+234_-102+237del	ENSP00000438726.2:n.-102+234_-102+237del
ENST00000546302.6:c.33+234_33+237del	ENSP00000445599.1:n.33+234_33+237del
ENST00000640813.1:c.-19+234_-19+237del	ENSP00000491061.1:n.-19+234_-19+237del
ENST00000648026.1:c.27+234_27+237del	ENSP00000498044.1:n.27+234_27+237del
ENST00000649823.1:n.11_14del
ENST00000649868.1:c.33+234_33+237del	ENSP00000497548.1:n.33+234_33+237del
ENST00000650101.1:c.-612_-609del	ENSP00000496970.1:n.-612_-609del
ENST00000650307.1:n.57_60del
ENST00000652429.1:c.33+234_33+237del MANE Select	ENSP00000498786.1:n.33+234_33+237del
ENST00000278715.7:c.33+234_33+237del	ENSP00000278715.3:n.33+234_33+237del
ENST00000442944.6:c.-102+234_-102+237del	ENSP00000392041.2:n.-102+234_-102+237del
ENST00000535793.5:c.33+234_33+237del	ENSP00000439904.1:n.33+234_33+237del
ENST00000536185.5:n.201+234_201+237del
ENST00000536813.5:c.33+234_33+237del	ENSP00000438726.1:n.33+234_33+237del
ENST00000537841.5:c.-19+143_-19+146del	ENSP00000444730.1:n.-19+143_-19+146del
ENST00000542044.5:n.158+234_158+237del
ENST00000542729.5:c.-19+143_-19+146del	ENSP00000443058.1:n.-19+143_-19+146del
ENST00000542822.5:c.124+143_124+146del	ENSP00000444817.1:n.124+143_124+146del
ENST00000543090.5:c.33+234_33+237del	ENSP00000445429.1:n.33+234_33+237del
ENST00000543821.5:n.179+234_179+237del
ENST00000544387.5:c.33+234_33+237del	ENSP00000438424.1:n.33+234_33+237del
ENST00000545621.5:c.33+234_33+237del	ENSP00000444849.1:n.33+234_33+237del
ENST00000545901.5:n.186+234_186+237del
ENST00000546302.5:c.33+234_33+237del	ENSP00000445599.1:n.33+234_33+237del
NM_000190.3:c.33+234_33+237del	NP_000181.2:n.33+234_33+237del
NM_001258208.1:c.33+234_33+237del	NP_001245137.1:n.33+234_33+237del
NM_001258209.1:c.-19+143_-19+146del	NP_001245138.1:n.-19+143_-19+146del
XM_005271531.1:c.-19+143_-19+146del	XP_005271588.1:n.-19+143_-19+146del
XM_005271532.1:c.-19+167_-19+170del	XP_005271589.1:n.-19+167_-19+170del
XM_005271533.2:c.33+234_33+237del	XP_005271590.1:n.33+234_33+237del
NM_000190.4:c.33+234_33+237del MANE Select	NP_000181.2:n.33+234_33+237del
XM_005271533.3:c.33+234_33+237del	XP_005271590.1:n.33+234_33+237del
XM_024448460.1:c.33+234_33+237del	XP_024304228.1:n.33+234_33+237del
NM_001258208.2:c.33+234_33+237del	NP_001245137.1:n.33+234_33+237del
NM_001258209.2:c.-19+143_-19+146del	NP_001245138.1:n.-19+143_-19+146del