Canonical Allele Identifier: CA2616354722

Gene: HMBS

Linked Data

• gnomAD v4: 11-119092243-T-TTG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092243_119092244insTG , CM000673.2:g.119092243_119092244insTG	GRCh38
NC_000011.9:g.118962953_118962954insTG , CM000673.1:g.118962953_118962954insTG	GRCh37
NC_000011.8:g.118468163_118468164insTG	NCBI36
NG_008093.1:g.12367_12368insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.486+80_486+81insTG	ENSP00000509288.1:n.486+80_486+81insTG
ENST00000691144.1:n.2472_2473insTG
ENST00000691249.1:n.1315_1316insTG
ENST00000442944.7:c.633+80_633+81insTG	ENSP00000392041.3:n.633+80_633+81insTG
ENST00000536813.6:c.600+80_600+81insTG	ENSP00000438726.2:n.600+80_600+81insTG
ENST00000640813.1:c.462-161_462-160insTG	ENSP00000491061.1:n.462-161_462-160insTG
ENST00000648026.1:c.545+80_545+81insTG	ENSP00000498044.1:n.545+80_545+81insTG
ENST00000648374.1:c.600+80_600+81insTG	ENSP00000497255.1:n.600+80_600+81insTG
ENST00000649823.1:n.948_949insTG
ENST00000650101.1:c.582+80_582+81insTG	ENSP00000496970.1:n.582+80_582+81insTG
ENST00000650307.1:n.1477+80_1477+81insTG
ENST00000652429.1:c.651+80_651+81insTG MANE Select	ENSP00000498786.1:n.651+80_651+81insTG
ENST00000278715.7:c.651+80_651+81insTG	ENSP00000278715.3:n.651+80_651+81insTG
ENST00000392841.1:c.600+80_600+81insTG	ENSP00000376584.1:n.600+80_600+81insTG
ENST00000442944.6:c.600+80_600+81insTG	ENSP00000392041.2:n.600+80_600+81insTG
ENST00000537841.5:c.600+80_600+81insTG	ENSP00000444730.1:n.600+80_600+81insTG
ENST00000542044.5:n.1096+80_1096+81insTG
ENST00000542345.5:n.869_870insTG
ENST00000542729.5:c.600+80_600+81insTG	ENSP00000443058.1:n.600+80_600+81insTG
ENST00000543090.5:c.559-161_559-160insTG	ENSP00000445429.1:n.559-161_559-160insTG
ENST00000543543.5:n.966_967insTG
ENST00000544182.1:n.706_707insTG
ENST00000544387.5:c.651+80_651+81insTG	ENSP00000438424.1:n.651+80_651+81insTG
ENST00000545621.5:c.*626_*627insTG	ENSP00000444849.1:n.*626_*627insTG
ENST00000546226.5:n.1019_1020insTG
NM_000190.3:c.651+80_651+81insTG	NP_000181.2:n.651+80_651+81insTG
NM_001024382.1:c.600+80_600+81insTG	NP_001019553.1:n.600+80_600+81insTG
NM_001258208.1:c.651+80_651+81insTG	NP_001245137.1:n.651+80_651+81insTG
NM_001258209.1:c.600+80_600+81insTG	NP_001245138.1:n.600+80_600+81insTG
XM_005271531.1:c.600+80_600+81insTG	XP_005271588.1:n.600+80_600+81insTG
XM_005271532.1:c.600+80_600+81insTG	XP_005271589.1:n.600+80_600+81insTG
XM_005271533.2:c.597+80_597+81insTG	XP_005271590.1:n.597+80_597+81insTG
XM_011542796.1:c.486+80_486+81insTG	XP_011541098.1:n.486+80_486+81insTG
NM_000190.4:c.651+80_651+81insTG MANE Select	NP_000181.2:n.651+80_651+81insTG
NM_001024382.2:c.600+80_600+81insTG	NP_001019553.1:n.600+80_600+81insTG
XM_005271533.3:c.597+80_597+81insTG	XP_005271590.1:n.597+80_597+81insTG
XM_017017629.1:c.600+80_600+81insTG	XP_016873118.1:n.600+80_600+81insTG
XM_024448460.1:c.597+80_597+81insTG	XP_024304228.1:n.597+80_597+81insTG
NM_001258208.2:c.651+80_651+81insTG	NP_001245137.1:n.651+80_651+81insTG
NM_001258209.2:c.600+80_600+81insTG	NP_001245138.1:n.600+80_600+81insTG