Canonical Allele Identifier: CA2616355801

Gene: HMBS

Linked Data

• gnomAD v4: 11-119093458-C-CTGAATTTTTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093459_119093460insGAATTTTTTTTTTTTTTTTTT , CM000673.2:g.119093459_119093460insGAATTTTTTTTTTTTTTTTTT	GRCh38
NC_000011.9:g.118964169_118964170insGAATTTTTTTTTTTTTTTTTT , CM000673.1:g.118964169_118964170insGAATTTTTTTTTTTTTTTTTT	GRCh37
NC_000011.8:g.118469379_118469380insGAATTTTTTTTTTTTTTTTTT	NCBI36
NG_008093.1:g.13583_13584insGAATTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.*176_*177insGAATTTTTTTTTTTTTTTTTT	ENSP00000509288.1:n.*176_*177insGAATTTTTTTTTTTTTTTTTT
ENST00000691144.1:n.3477_3478insGAATTTTTTTTTTTTTTTTTT
ENST00000691249.1:n.2086_2087insGAATTTTTTTTTTTTTTTTTT
ENST00000442944.7:c.*176_*177insGAATTTTTTTTTTTTTTTTTT	ENSP00000392041.3:n.*176_*177insGAATTTTTTTTTTTTTTTTTT
ENST00000640813.1:c.*499_*500insGAATTTTTTTTTTTTTTTTTT	ENSP00000491061.1:n.*499_*500insGAATTTTTTTTTTTTTTTTTT
ENST00000648026.1:c.1156_1157insGAATTTTTTTTTTTTTTTTTT	ENSP00000498044.1:n.1156_1157insGAATTTTTTTTTTTTTTTTTT
ENST00000648374.1:c.*176_*177insGAATTTTTTTTTTTTTTTTTT	ENSP00000497255.1:n.*176_*177insGAATTTTTTTTTTTTTTTTTT
ENST00000650101.1:c.*176_*177insGAATTTTTTTTTTTTTTTTTT	ENSP00000496970.1:n.*176_*177insGAATTTTTTTTTTTTTTTTTT
ENST00000650307.1:n.2088_2089insGAATTTTTTTTTTTTTTTTTT
ENST00000652429.1:c.*176_*177insGAATTTTTTTTTTTTTTTTTT MANE Select	ENSP00000498786.1:n.*176_*177insGAATTTTTTTTTTTTTTTTTT
ENST00000278715.7:c.*176_*177insGAATTTTTTTTTTTTTTTTTT	ENSP00000278715.3:n.*176_*177insGAATTTTTTTTTTTTTTTTTT
ENST00000392841.1:c.*176_*177insGAATTTTTTTTTTTTTTTTTT	ENSP00000376584.1:n.*176_*177insGAATTTTTTTTTTTTTTTTTT
ENST00000442944.6:c.*176_*177insGAATTTTTTTTTTTTTTTTTT	ENSP00000392041.2:n.*176_*177insGAATTTTTTTTTTTTTTTTTT
ENST00000537841.5:c.*176_*177insGAATTTTTTTTTTTTTTTTTT	ENSP00000444730.1:n.*176_*177insGAATTTTTTTTTTTTTTTTTT
ENST00000539045.1:n.761_762insGAATTTTTTTTTTTTTTTTTT
ENST00000542729.5:c.*176_*177insGAATTTTTTTTTTTTTTTTTT	ENSP00000443058.1:n.*176_*177insGAATTTTTTTTTTTTTTTTTT
ENST00000543090.5:c.*176_*177insGAATTTTTTTTTTTTTTTTTT	ENSP00000445429.1:n.*176_*177insGAATTTTTTTTTTTTTTTTTT
ENST00000543543.5:n.1737_1738insGAATTTTTTTTTTTTTTTTTT
ENST00000544387.5:c.*176_*177insGAATTTTTTTTTTTTTTTTTT	ENSP00000438424.1:n.*176_*177insGAATTTTTTTTTTTTTTTTTT
ENST00000546226.5:n.2024_2025insGAATTTTTTTTTTTTTTTTTT
NM_000190.3:c.*176_*177insGAATTTTTTTTTTTTTTTTTT	NP_000181.2:n.*176_*177insGAATTTTTTTTTTTTTTTTTT
NM_001024382.1:c.*176_*177insGAATTTTTTTTTTTTTTTTTT	NP_001019553.1:n.*176_*177insGAATTTTTTTTTTTTTTTTTT
NM_001258208.1:c.*176_*177insGAATTTTTTTTTTTTTTTTTT	NP_001245137.1:n.*176_*177insGAATTTTTTTTTTTTTTTTTT
NM_001258209.1:c.*176_*177insGAATTTTTTTTTTTTTTTTTT	NP_001245138.1:n.*176_*177insGAATTTTTTTTTTTTTTTTTT
XM_005271531.1:c.*176_*177insGAATTTTTTTTTTTTTTTTTT	XP_005271588.1:n.*176_*177insGAATTTTTTTTTTTTTTTTTT
XM_005271532.1:c.*176_*177insGAATTTTTTTTTTTTTTTTTT	XP_005271589.1:n.*176_*177insGAATTTTTTTTTTTTTTTTTT
XM_005271533.2:c.*176_*177insGAATTTTTTTTTTTTTTTTTT	XP_005271590.1:n.*176_*177insGAATTTTTTTTTTTTTTTTTT
XM_011542796.1:c.*176_*177insGAATTTTTTTTTTTTTTTTTT	XP_011541098.1:n.*176_*177insGAATTTTTTTTTTTTTTTTTT
NM_000190.4:c.*176_*177insGAATTTTTTTTTTTTTTTTTT MANE Select	NP_000181.2:n.*176_*177insGAATTTTTTTTTTTTTTTTTT
NM_001024382.2:c.*176_*177insGAATTTTTTTTTTTTTTTTTT	NP_001019553.1:n.*176_*177insGAATTTTTTTTTTTTTTTTTT
XM_005271533.3:c.*176_*177insGAATTTTTTTTTTTTTTTTTT	XP_005271590.1:n.*176_*177insGAATTTTTTTTTTTTTTTTTT
XM_017017629.1:c.*176_*177insGAATTTTTTTTTTTTTTTTTT	XP_016873118.1:n.*176_*177insGAATTTTTTTTTTTTTTTTTT
XM_024448460.1:c.*176_*177insGAATTTTTTTTTTTTTTTTTT	XP_024304228.1:n.*176_*177insGAATTTTTTTTTTTTTTTTTT
NM_001258208.2:c.*176_*177insGAATTTTTTTTTTTTTTTTTT	NP_001245137.1:n.*176_*177insGAATTTTTTTTTTTTTTTTTT
NM_001258209.2:c.*176_*177insGAATTTTTTTTTTTTTTTTTT	NP_001245138.1:n.*176_*177insGAATTTTTTTTTTTTTTTTTT