Canonical Allele Identifier: CA2616355742

Gene: HMBS

Linked Data

• gnomAD v4: 11-119093427-C-CAAGGTGAGGCAA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093428_119093429insAGGTGAGGCAAA , CM000673.2:g.119093428_119093429insAGGTGAGGCAAA	GRCh38
NC_000011.9:g.118964138_118964139insAGGTGAGGCAAA , CM000673.1:g.118964138_118964139insAGGTGAGGCAAA	GRCh37
NC_000011.8:g.118469348_118469349insAGGTGAGGCAAA	NCBI36
NG_008093.1:g.13552_13553insAGGTGAGGCAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.*145_*146insAGGTGAGGCAAA	ENSP00000509288.1:n.*145_*146insAGGTGAGGCAAA
ENST00000691144.1:n.3446_3447insAGGTGAGGCAAA
ENST00000691249.1:n.2055_2056insAGGTGAGGCAAA
ENST00000442944.7:c.*145_*146insAGGTGAGGCAAA	ENSP00000392041.3:n.*145_*146insAGGTGAGGCAAA
ENST00000640813.1:c.*468_*469insAGGTGAGGCAAA	ENSP00000491061.1:n.*468_*469insAGGTGAGGCAAA
ENST00000648026.1:c.1125_1126insAGGTGAGGCAAA	ENSP00000498044.1:n.1125_1126insAGGTGAGGCAAA
ENST00000648374.1:c.*145_*146insAGGTGAGGCAAA	ENSP00000497255.1:n.*145_*146insAGGTGAGGCAAA
ENST00000650101.1:c.*145_*146insAGGTGAGGCAAA	ENSP00000496970.1:n.*145_*146insAGGTGAGGCAAA
ENST00000650307.1:n.2057_2058insAGGTGAGGCAAA
ENST00000652429.1:c.*145_*146insAGGTGAGGCAAA MANE Select	ENSP00000498786.1:n.*145_*146insAGGTGAGGCAAA
ENST00000278715.7:c.*145_*146insAGGTGAGGCAAA	ENSP00000278715.3:n.*145_*146insAGGTGAGGCAAA
ENST00000392841.1:c.*145_*146insAGGTGAGGCAAA	ENSP00000376584.1:n.*145_*146insAGGTGAGGCAAA
ENST00000442944.6:c.*145_*146insAGGTGAGGCAAA	ENSP00000392041.2:n.*145_*146insAGGTGAGGCAAA
ENST00000537841.5:c.*145_*146insAGGTGAGGCAAA	ENSP00000444730.1:n.*145_*146insAGGTGAGGCAAA
ENST00000539045.1:n.730_731insAGGTGAGGCAAA
ENST00000542729.5:c.*145_*146insAGGTGAGGCAAA	ENSP00000443058.1:n.*145_*146insAGGTGAGGCAAA
ENST00000543090.5:c.*145_*146insAGGTGAGGCAAA	ENSP00000445429.1:n.*145_*146insAGGTGAGGCAAA
ENST00000543543.5:n.1706_1707insAGGTGAGGCAAA
ENST00000544387.5:c.*145_*146insAGGTGAGGCAAA	ENSP00000438424.1:n.*145_*146insAGGTGAGGCAAA
ENST00000546226.5:n.1993_1994insAGGTGAGGCAAA
NM_000190.3:c.*145_*146insAGGTGAGGCAAA	NP_000181.2:n.*145_*146insAGGTGAGGCAAA
NM_001024382.1:c.*145_*146insAGGTGAGGCAAA	NP_001019553.1:n.*145_*146insAGGTGAGGCAAA
NM_001258208.1:c.*145_*146insAGGTGAGGCAAA	NP_001245137.1:n.*145_*146insAGGTGAGGCAAA
NM_001258209.1:c.*145_*146insAGGTGAGGCAAA	NP_001245138.1:n.*145_*146insAGGTGAGGCAAA
XM_005271531.1:c.*145_*146insAGGTGAGGCAAA	XP_005271588.1:n.*145_*146insAGGTGAGGCAAA
XM_005271532.1:c.*145_*146insAGGTGAGGCAAA	XP_005271589.1:n.*145_*146insAGGTGAGGCAAA
XM_005271533.2:c.*145_*146insAGGTGAGGCAAA	XP_005271590.1:n.*145_*146insAGGTGAGGCAAA
XM_011542796.1:c.*145_*146insAGGTGAGGCAAA	XP_011541098.1:n.*145_*146insAGGTGAGGCAAA
NM_000190.4:c.*145_*146insAGGTGAGGCAAA MANE Select	NP_000181.2:n.*145_*146insAGGTGAGGCAAA
NM_001024382.2:c.*145_*146insAGGTGAGGCAAA	NP_001019553.1:n.*145_*146insAGGTGAGGCAAA
XM_005271533.3:c.*145_*146insAGGTGAGGCAAA	XP_005271590.1:n.*145_*146insAGGTGAGGCAAA
XM_017017629.1:c.*145_*146insAGGTGAGGCAAA	XP_016873118.1:n.*145_*146insAGGTGAGGCAAA
XM_024448460.1:c.*145_*146insAGGTGAGGCAAA	XP_024304228.1:n.*145_*146insAGGTGAGGCAAA
NM_001258208.2:c.*145_*146insAGGTGAGGCAAA	NP_001245137.1:n.*145_*146insAGGTGAGGCAAA
NM_001258209.2:c.*145_*146insAGGTGAGGCAAA	NP_001245138.1:n.*145_*146insAGGTGAGGCAAA