Canonical Allele Identifier: CA2003782683

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119089498_119089500delinsGTA , CM000673.2:g.119089498_119089500delinsGTA	GRCh38
NC_000011.9:g.118960208_118960210delinsGTA , CM000673.1:g.118960208_118960210delinsGTA	GRCh37
NC_000011.8:g.118465418_118465420delinsGTA	NCBI36
NG_008093.1:g.9622_9624delinsGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.102-185_102-183delinsGTA	ENSP00000509288.1:n.102-185_102-183delinsGTA
ENST00000686690.1:n.888-185_888-183delinsGTA
ENST00000691144.1:n.2008-185_2008-183delinsGTA
ENST00000691249.1:n.851-185_851-183delinsGTA
ENST00000442944.7:c.249-185_249-183delinsGTA	ENSP00000392041.3:n.249-185_249-183delinsGTA
ENST00000534956.2:n.216-185_216-183delinsGTA
ENST00000536813.6:c.216-185_216-183delinsGTA	ENSP00000438726.2:n.216-185_216-183delinsGTA
ENST00000546302.6:c.266+226_266+228delinsGTA	ENSP00000445599.1:n.266+226_266+228delinsGTA
ENST00000640813.1:c.216-185_216-183delinsGTA	ENSP00000491061.1:n.216-185_216-183delinsGTA
ENST00000648026.1:c.261-185_261-183delinsGTA	ENSP00000498044.1:n.261-185_261-183delinsGTA
ENST00000648374.1:c.216-185_216-183delinsGTA	ENSP00000497255.1:n.216-185_216-183delinsGTA
ENST00000648488.1:c.216-185_216-183delinsGTA	ENSP00000498079.1:n.216-185_216-183delinsGTA
ENST00000649823.1:n.484-185_484-183delinsGTA
ENST00000649868.1:c.122-185_122-183delinsGTA	ENSP00000497548.1:n.122-185_122-183delinsGTA
ENST00000650101.1:c.198-185_198-183delinsGTA	ENSP00000496970.1:n.198-185_198-183delinsGTA
ENST00000650307.1:n.1093-185_1093-183delinsGTA
ENST00000652429.1:c.267-185_267-183delinsGTA MANE Select	ENSP00000498786.1:n.267-185_267-183delinsGTA
ENST00000278715.7:c.267-185_267-183delinsGTA	ENSP00000278715.3:n.267-185_267-183delinsGTA
ENST00000392841.1:c.216-185_216-183delinsGTA	ENSP00000376584.1:n.216-185_216-183delinsGTA
ENST00000442944.6:c.216-185_216-183delinsGTA	ENSP00000392041.2:n.216-185_216-183delinsGTA
ENST00000534956.1:n.183-185_183-183delinsGTA
ENST00000535253.5:c.216-185_216-183delinsGTA	ENSP00000442079.1:n.216-185_216-183delinsGTA
ENST00000535793.5:c.*162-185_*162-183delinsGTA	ENSP00000439904.1:n.*162-185_*162-183delinsGTA
ENST00000536185.5:n.385-185_385-183delinsGTA
ENST00000536813.5:c.249-185_249-183delinsGTA	ENSP00000438726.1:n.249-185_249-183delinsGTA
ENST00000537841.5:c.216-185_216-183delinsGTA	ENSP00000444730.1:n.216-185_216-183delinsGTA
ENST00000539986.5:c.216-185_216-183delinsGTA	ENSP00000440092.1:n.216-185_216-183delinsGTA
ENST00000542044.5:n.712-185_712-183delinsGTA
ENST00000542345.5:n.405-185_405-183delinsGTA
ENST00000542729.5:c.216-185_216-183delinsGTA	ENSP00000443058.1:n.216-185_216-183delinsGTA
ENST00000542822.5:c.*203-185_*203-183delinsGTA	ENSP00000444817.1:n.*203-185_*203-183delinsGTA
ENST00000543090.5:c.213-185_213-183delinsGTA	ENSP00000445429.1:n.213-185_213-183delinsGTA
ENST00000543543.5:n.502-185_502-183delinsGTA
ENST00000543821.5:n.413-185_413-183delinsGTA
ENST00000544360.5:n.235-185_235-183delinsGTA
ENST00000544387.5:c.267-185_267-183delinsGTA	ENSP00000438424.1:n.267-185_267-183delinsGTA
ENST00000545621.5:c.*162-185_*162-183delinsGTA	ENSP00000444849.1:n.*162-185_*162-183delinsGTA
ENST00000546226.5:n.326-185_326-183delinsGTA
ENST00000546302.5:c.266+226_266+228delinsGTA	ENSP00000445599.1:n.266+226_266+228delinsGTA
NM_000190.3:c.267-185_267-183delinsGTA	NP_000181.2:n.267-185_267-183delinsGTA
NM_001024382.1:c.216-185_216-183delinsGTA	NP_001019553.1:n.216-185_216-183delinsGTA
NM_001258208.1:c.267-185_267-183delinsGTA	NP_001245137.1:n.267-185_267-183delinsGTA
NM_001258209.1:c.216-185_216-183delinsGTA	NP_001245138.1:n.216-185_216-183delinsGTA
XM_005271531.1:c.216-185_216-183delinsGTA	XP_005271588.1:n.216-185_216-183delinsGTA
XM_005271532.1:c.216-185_216-183delinsGTA	XP_005271589.1:n.216-185_216-183delinsGTA
XM_005271533.2:c.213-185_213-183delinsGTA	XP_005271590.1:n.213-185_213-183delinsGTA
XM_011542796.1:c.102-185_102-183delinsGTA	XP_011541098.1:n.102-185_102-183delinsGTA
NM_000190.4:c.267-185_267-183delinsGTA MANE Select	NP_000181.2:n.267-185_267-183delinsGTA
NM_001024382.2:c.216-185_216-183delinsGTA	NP_001019553.1:n.216-185_216-183delinsGTA
XM_005271533.3:c.213-185_213-183delinsGTA	XP_005271590.1:n.213-185_213-183delinsGTA
XM_017017629.1:c.216-185_216-183delinsGTA	XP_016873118.1:n.216-185_216-183delinsGTA
XM_024448460.1:c.213-185_213-183delinsGTA	XP_024304228.1:n.213-185_213-183delinsGTA
NM_001258208.2:c.267-185_267-183delinsGTA	NP_001245137.1:n.267-185_267-183delinsGTA
NM_001258209.2:c.216-185_216-183delinsGTA	NP_001245138.1:n.216-185_216-183delinsGTA