Canonical Allele Identifier: CA2616355027

Gene: HMBS

Linked Data

• gnomAD v4: 11-119092619-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092619_119092620insA , CM000673.2:g.119092619_119092620insA	GRCh38
NC_000011.9:g.118963329_118963330insA , CM000673.1:g.118963329_118963330insA	GRCh37
NC_000011.8:g.118468539_118468540insA	NCBI36
NG_008093.1:g.12743_12744insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.606+96_606+97insA	ENSP00000509288.1:n.606+96_606+97insA
ENST00000691144.1:n.2848_2849insA
ENST00000691249.1:n.1595+96_1595+97insA
ENST00000442944.7:c.753+96_753+97insA	ENSP00000392041.3:n.753+96_753+97insA
ENST00000640813.1:c.*8+96_*8+97insA	ENSP00000491061.1:n.*8+96_*8+97insA
ENST00000648026.1:c.665+96_665+97insA	ENSP00000498044.1:n.665+96_665+97insA
ENST00000648374.1:c.720+96_720+97insA	ENSP00000497255.1:n.720+96_720+97insA
ENST00000649823.1:n.1228+96_1228+97insA
ENST00000650101.1:c.702+96_702+97insA	ENSP00000496970.1:n.702+96_702+97insA
ENST00000650307.1:n.1597+96_1597+97insA
ENST00000652429.1:c.771+96_771+97insA MANE Select	ENSP00000498786.1:n.771+96_771+97insA
ENST00000278715.7:c.771+96_771+97insA	ENSP00000278715.3:n.771+96_771+97insA
ENST00000392841.1:c.720+96_720+97insA	ENSP00000376584.1:n.720+96_720+97insA
ENST00000442944.6:c.720+96_720+97insA	ENSP00000392041.2:n.720+96_720+97insA
ENST00000537841.5:c.720+96_720+97insA	ENSP00000444730.1:n.720+96_720+97insA
ENST00000539045.1:n.9_10insA
ENST00000542044.5:n.1216+96_1216+97insA
ENST00000542729.5:c.601-139_601-138insA	ENSP00000443058.1:n.601-139_601-138insA
ENST00000543090.5:c.678+96_678+97insA	ENSP00000445429.1:n.678+96_678+97insA
ENST00000543543.5:n.1246+96_1246+97insA
ENST00000544182.1:n.1082_1083insA
ENST00000544387.5:c.652-139_652-138insA	ENSP00000438424.1:n.652-139_652-138insA
ENST00000546226.5:n.1395_1396insA
NM_000190.3:c.771+96_771+97insA	NP_000181.2:n.771+96_771+97insA
NM_001024382.1:c.720+96_720+97insA	NP_001019553.1:n.720+96_720+97insA
NM_001258208.1:c.652-139_652-138insA	NP_001245137.1:n.652-139_652-138insA
NM_001258209.1:c.601-139_601-138insA	NP_001245138.1:n.601-139_601-138insA
XM_005271531.1:c.720+96_720+97insA	XP_005271588.1:n.720+96_720+97insA
XM_005271532.1:c.720+96_720+97insA	XP_005271589.1:n.720+96_720+97insA
XM_005271533.2:c.717+96_717+97insA	XP_005271590.1:n.717+96_717+97insA
XM_011542796.1:c.606+96_606+97insA	XP_011541098.1:n.606+96_606+97insA
NM_000190.4:c.771+96_771+97insA MANE Select	NP_000181.2:n.771+96_771+97insA
NM_001024382.2:c.720+96_720+97insA	NP_001019553.1:n.720+96_720+97insA
XM_005271533.3:c.717+96_717+97insA	XP_005271590.1:n.717+96_717+97insA
XM_017017629.1:c.720+96_720+97insA	XP_016873118.1:n.720+96_720+97insA
XM_024448460.1:c.598-139_598-138insA	XP_024304228.1:n.598-139_598-138insA
NM_001258208.2:c.652-139_652-138insA	NP_001245137.1:n.652-139_652-138insA
NM_001258209.2:c.601-139_601-138insA	NP_001245138.1:n.601-139_601-138insA