Canonical Allele Identifier: CA2003791389

Gene: HMBS

Linked Data

• dbSNP Id: rs1946292833
• gnomAD v4: 11-119092384-C-CTA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092385_119092386dup , CM000673.2:g.119092385_119092386dup	GRCh38
NC_000011.9:g.118963095_118963096dup , CM000673.1:g.118963095_118963096dup	GRCh37
NC_000011.8:g.118468305_118468306dup	NCBI36
NG_008093.1:g.12509_12510dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.487-19_487-18dup	ENSP00000509288.1:n.487-19_487-18dup
ENST00000691144.1:n.2614_2615dup
ENST00000691249.1:n.1457_1458dup
ENST00000442944.7:c.634-19_634-18dup	ENSP00000392041.3:n.634-19_634-18dup
ENST00000536813.6:c.601-19_601-18dup	ENSP00000438726.2:n.601-19_601-18dup
ENST00000640813.1:c.462-19_462-18dup	ENSP00000491061.1:n.462-19_462-18dup
ENST00000648026.1:c.546-19_546-18dup	ENSP00000498044.1:n.546-19_546-18dup
ENST00000648374.1:c.601-19_601-18dup	ENSP00000497255.1:n.601-19_601-18dup
ENST00000649823.1:n.1090_1091dup
ENST00000650101.1:c.583-19_583-18dup	ENSP00000496970.1:n.583-19_583-18dup
ENST00000650307.1:n.1478-19_1478-18dup
ENST00000652429.1:c.652-19_652-18dup MANE Select	ENSP00000498786.1:n.652-19_652-18dup
ENST00000278715.7:c.652-19_652-18dup	ENSP00000278715.3:n.652-19_652-18dup
ENST00000392841.1:c.601-19_601-18dup	ENSP00000376584.1:n.601-19_601-18dup
ENST00000442944.6:c.601-19_601-18dup	ENSP00000392041.2:n.601-19_601-18dup
ENST00000537841.5:c.601-19_601-18dup	ENSP00000444730.1:n.601-19_601-18dup
ENST00000542044.5:n.1097-19_1097-18dup
ENST00000542729.5:c.600+222_600+223dup	ENSP00000443058.1:n.600+222_600+223dup
ENST00000543090.5:c.559-19_559-18dup	ENSP00000445429.1:n.559-19_559-18dup
ENST00000543543.5:n.1108_1109dup
ENST00000544182.1:n.848_849dup
ENST00000544387.5:c.651+222_651+223dup	ENSP00000438424.1:n.651+222_651+223dup
ENST00000545621.5:c.*768_*769dup	ENSP00000444849.1:n.*768_*769dup
ENST00000546226.5:n.1161_1162dup
NM_000190.3:c.652-19_652-18dup	NP_000181.2:n.652-19_652-18dup
NM_001024382.1:c.601-19_601-18dup	NP_001019553.1:n.601-19_601-18dup
NM_001258208.1:c.651+222_651+223dup	NP_001245137.1:n.651+222_651+223dup
NM_001258209.1:c.600+222_600+223dup	NP_001245138.1:n.600+222_600+223dup
XM_005271531.1:c.601-19_601-18dup	XP_005271588.1:n.601-19_601-18dup
XM_005271532.1:c.601-19_601-18dup	XP_005271589.1:n.601-19_601-18dup
XM_005271533.2:c.598-19_598-18dup	XP_005271590.1:n.598-19_598-18dup
XM_011542796.1:c.487-19_487-18dup	XP_011541098.1:n.487-19_487-18dup
NM_000190.4:c.652-19_652-18dup MANE Select	NP_000181.2:n.652-19_652-18dup
NM_001024382.2:c.601-19_601-18dup	NP_001019553.1:n.601-19_601-18dup
XM_005271533.3:c.598-19_598-18dup	XP_005271590.1:n.598-19_598-18dup
XM_017017629.1:c.601-19_601-18dup	XP_016873118.1:n.601-19_601-18dup
XM_024448460.1:c.597+222_597+223dup	XP_024304228.1:n.597+222_597+223dup
NM_001258208.2:c.651+222_651+223dup	NP_001245137.1:n.651+222_651+223dup
NM_001258209.2:c.600+222_600+223dup	NP_001245138.1:n.600+222_600+223dup