Canonical Allele Identifier: CA2003782318

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119088720_119088721delinsGA , CM000673.2:g.119088720_119088721delinsGA	GRCh38
NC_000011.9:g.118959430_118959431delinsGA , CM000673.1:g.118959430_118959431delinsGA	GRCh37
NC_000011.8:g.118464640_118464641delinsGA	NCBI36
NG_008093.1:g.8844_8845delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.-6+13_-6+14delinsGA	ENSP00000509288.1:n.-6+13_-6+14delinsGA
ENST00000686690.1:n.335_336delinsGA
ENST00000691144.1:n.1455_1456delinsGA
ENST00000691249.1:n.744+13_744+14delinsGA
ENST00000442944.7:c.160+13_160+14delinsGA	ENSP00000392041.3:n.160+13_160+14delinsGA
ENST00000534956.2:n.109+13_109+14delinsGA
ENST00000536813.6:c.109+13_109+14delinsGA	ENSP00000438726.2:n.109+13_109+14delinsGA
ENST00000546302.6:c.160+13_160+14delinsGA	ENSP00000445599.1:n.160+13_160+14delinsGA
ENST00000640813.1:c.109+13_109+14delinsGA	ENSP00000491061.1:n.109+13_109+14delinsGA
ENST00000648026.1:c.154+13_154+14delinsGA	ENSP00000498044.1:n.154+13_154+14delinsGA
ENST00000648374.1:c.109+13_109+14delinsGA	ENSP00000497255.1:n.109+13_109+14delinsGA
ENST00000648488.1:c.109+13_109+14delinsGA	ENSP00000498079.1:n.109+13_109+14delinsGA
ENST00000649823.1:n.377+13_377+14delinsGA
ENST00000649868.1:c.34-380_34-379delinsGA	ENSP00000497548.1:n.34-380_34-379delinsGA
ENST00000650101.1:c.109+13_109+14delinsGA	ENSP00000496970.1:n.109+13_109+14delinsGA
ENST00000650307.1:n.625_626delinsGA
ENST00000652429.1:c.160+13_160+14delinsGA MANE Select	ENSP00000498786.1:n.160+13_160+14delinsGA
ENST00000278715.7:c.160+13_160+14delinsGA	ENSP00000278715.3:n.160+13_160+14delinsGA
ENST00000392841.1:c.109+13_109+14delinsGA	ENSP00000376584.1:n.109+13_109+14delinsGA
ENST00000442944.6:c.109+13_109+14delinsGA	ENSP00000392041.2:n.109+13_109+14delinsGA
ENST00000534956.1:n.76+13_76+14delinsGA
ENST00000535253.5:c.109+13_109+14delinsGA	ENSP00000442079.1:n.109+13_109+14delinsGA
ENST00000535793.5:c.119_120delinsGA	ENSP00000439904.1:p.Gly40=
ENST00000536185.5:n.328+13_328+14delinsGA
ENST00000536813.5:c.160+13_160+14delinsGA	ENSP00000438726.1:n.160+13_160+14delinsGA
ENST00000537841.5:c.109+13_109+14delinsGA	ENSP00000444730.1:n.109+13_109+14delinsGA
ENST00000539986.5:c.109+13_109+14delinsGA	ENSP00000440092.1:n.109+13_109+14delinsGA
ENST00000542044.5:n.244_245delinsGA
ENST00000542345.5:n.298+13_298+14delinsGA
ENST00000542729.5:c.109+13_109+14delinsGA	ENSP00000443058.1:n.109+13_109+14delinsGA
ENST00000542822.5:c.*18_*19delinsGA	ENSP00000444817.1:n.*18_*19delinsGA
ENST00000543090.5:c.106+13_106+14delinsGA	ENSP00000445429.1:n.106+13_106+14delinsGA
ENST00000543543.5:n.395+13_395+14delinsGA
ENST00000543821.5:n.306+13_306+14delinsGA
ENST00000544360.5:n.128+13_128+14delinsGA
ENST00000544387.5:c.160+13_160+14delinsGA	ENSP00000438424.1:n.160+13_160+14delinsGA
ENST00000545621.5:c.173_174delinsGA	ENSP00000444849.1:p.Gly58=
ENST00000545901.5:n.326_327delinsGA
ENST00000546226.5:n.219+13_219+14delinsGA
ENST00000546302.5:c.160+13_160+14delinsGA	ENSP00000445599.1:n.160+13_160+14delinsGA
NM_000190.3:c.160+13_160+14delinsGA	NP_000181.2:n.160+13_160+14delinsGA
NM_001024382.1:c.109+13_109+14delinsGA	NP_001019553.1:n.109+13_109+14delinsGA
NM_001258208.1:c.160+13_160+14delinsGA	NP_001245137.1:n.160+13_160+14delinsGA
NM_001258209.1:c.109+13_109+14delinsGA	NP_001245138.1:n.109+13_109+14delinsGA
XM_005271531.1:c.109+13_109+14delinsGA	XP_005271588.1:n.109+13_109+14delinsGA
XM_005271532.1:c.109+13_109+14delinsGA	XP_005271589.1:n.109+13_109+14delinsGA
XM_005271533.2:c.106+13_106+14delinsGA	XP_005271590.1:n.106+13_106+14delinsGA
XM_011542796.1:c.-6+13_-6+14delinsGA	XP_011541098.1:n.-6+13_-6+14delinsGA
NM_000190.4:c.160+13_160+14delinsGA MANE Select	NP_000181.2:n.160+13_160+14delinsGA
NM_001024382.2:c.109+13_109+14delinsGA	NP_001019553.1:n.109+13_109+14delinsGA
XM_005271533.3:c.106+13_106+14delinsGA	XP_005271590.1:n.106+13_106+14delinsGA
XM_017017629.1:c.109+13_109+14delinsGA	XP_016873118.1:n.109+13_109+14delinsGA
XM_024448460.1:c.106+13_106+14delinsGA	XP_024304228.1:n.106+13_106+14delinsGA
NM_001258208.2:c.160+13_160+14delinsGA	NP_001245137.1:n.160+13_160+14delinsGA
NM_001258209.2:c.109+13_109+14delinsGA	NP_001245138.1:n.109+13_109+14delinsGA