Canonical Allele Identifier: CA2003791298

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092324_119092328delinsGTAGA , CM000673.2:g.119092324_119092328delinsGTAGA	GRCh38
NC_000011.9:g.118963034_118963038delinsGTAGA , CM000673.1:g.118963034_118963038delinsGTAGA	GRCh37
NC_000011.8:g.118468244_118468248delinsGTAGA	NCBI36
NG_008093.1:g.12448_12452delinsGTAGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.487-80_487-76delinsGTAGA	ENSP00000509288.1:n.487-80_487-76delinsGT...
ENST00000691144.1:n.2553_2557delinsGTAGA
ENST00000691249.1:n.1396_1400delinsGTAGA
ENST00000442944.7:c.634-80_634-76delinsGTAGA	ENSP00000392041.3:n.634-80_634-76delinsGT...
ENST00000536813.6:c.601-80_601-76delinsGTAGA	ENSP00000438726.2:n.601-80_601-76delinsGT...
ENST00000640813.1:c.462-80_462-76delinsGTAGA	ENSP00000491061.1:n.462-80_462-76delinsGT...
ENST00000648026.1:c.546-80_546-76delinsGTAGA	ENSP00000498044.1:n.546-80_546-76delinsGT...
ENST00000648374.1:c.601-80_601-76delinsGTAGA	ENSP00000497255.1:n.601-80_601-76delinsGT...
ENST00000649823.1:n.1029_1033delinsGTAGA
ENST00000650101.1:c.583-80_583-76delinsGTAGA	ENSP00000496970.1:n.583-80_583-76delinsGT...
ENST00000650307.1:n.1478-80_1478-76delinsGTAGA
ENST00000652429.1:c.652-80_652-76delinsGTAGA MANE Select	ENSP00000498786.1:n.652-80_652-76delinsGT...
ENST00000278715.7:c.652-80_652-76delinsGTAGA	ENSP00000278715.3:n.652-80_652-76delinsGT...
ENST00000392841.1:c.601-80_601-76delinsGTAGA	ENSP00000376584.1:n.601-80_601-76delinsGT...
ENST00000442944.6:c.601-80_601-76delinsGTAGA	ENSP00000392041.2:n.601-80_601-76delinsGT...
ENST00000537841.5:c.601-80_601-76delinsGTAGA	ENSP00000444730.1:n.601-80_601-76delinsGT...
ENST00000542044.5:n.1097-80_1097-76delinsGTAGA
ENST00000542729.5:c.600+161_600+165delinsGTAGA	ENSP00000443058.1:n.600+161_600+165delins...
ENST00000543090.5:c.559-80_559-76delinsGTAGA	ENSP00000445429.1:n.559-80_559-76delinsGT...
ENST00000543543.5:n.1047_1051delinsGTAGA
ENST00000544182.1:n.787_791delinsGTAGA
ENST00000544387.5:c.651+161_651+165delinsGTAGA	ENSP00000438424.1:n.651+161_651+165delins...
ENST00000545621.5:c.*707_*711delinsGTAGA	ENSP00000444849.1:n.*707_*711delinsGTAGA
ENST00000546226.5:n.1100_1104delinsGTAGA
NM_000190.3:c.652-80_652-76delinsGTAGA	NP_000181.2:n.652-80_652-76delinsGTAGA
NM_001024382.1:c.601-80_601-76delinsGTAGA	NP_001019553.1:n.601-80_601-76delinsGTAGA...
NM_001258208.1:c.651+161_651+165delinsGTAGA	NP_001245137.1:n.651+161_651+165delinsGTA...
NM_001258209.1:c.600+161_600+165delinsGTAGA	NP_001245138.1:n.600+161_600+165delinsGTA...
XM_005271531.1:c.601-80_601-76delinsGTAGA	XP_005271588.1:n.601-80_601-76delinsGTAGA...
XM_005271532.1:c.601-80_601-76delinsGTAGA	XP_005271589.1:n.601-80_601-76delinsGTAGA...
XM_005271533.2:c.598-80_598-76delinsGTAGA	XP_005271590.1:n.598-80_598-76delinsGTAGA...
XM_011542796.1:c.487-80_487-76delinsGTAGA	XP_011541098.1:n.487-80_487-76delinsGTAGA...
NM_000190.4:c.652-80_652-76delinsGTAGA MANE Select	NP_000181.2:n.652-80_652-76delinsGTAGA
NM_001024382.2:c.601-80_601-76delinsGTAGA	NP_001019553.1:n.601-80_601-76delinsGTAGA...
XM_005271533.3:c.598-80_598-76delinsGTAGA	XP_005271590.1:n.598-80_598-76delinsGTAGA...
XM_017017629.1:c.601-80_601-76delinsGTAGA	XP_016873118.1:n.601-80_601-76delinsGTAGA...
XM_024448460.1:c.597+161_597+165delinsGTAGA	XP_024304228.1:n.597+161_597+165delinsGTA...
NM_001258208.2:c.651+161_651+165delinsGTAGA	NP_001245137.1:n.651+161_651+165delinsGTA...
NM_001258209.2:c.600+161_600+165delinsGTAGA	NP_001245138.1:n.600+161_600+165delinsGTA...