Canonical Allele Identifier: CA2003792484

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092845_119092848delinsAAGG , CM000673.2:g.119092845_119092848delinsAAGG	GRCh38
NC_000011.9:g.118963555_118963558delinsAAGG , CM000673.1:g.118963555_118963558delinsAAGG	GRCh37
NC_000011.8:g.118468765_118468768delinsAAGG	NCBI36
NG_008093.1:g.12969_12972delinsAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.660+34_660+37delinsAAGG	ENSP00000509288.1:n.660+34_660+37delinsAAGG
ENST00000691144.1:n.3040+34_3040+37delinsAAGG
ENST00000691249.1:n.1649+34_1649+37delinsAAGG
ENST00000442944.7:c.807+34_807+37delinsAAGG	ENSP00000392041.3:n.807+34_807+37delinsAAGG
ENST00000640813.1:c.*62+34_*62+37delinsAAGG	ENSP00000491061.1:n.*62+34_*62+37delinsAAGG
ENST00000648026.1:c.719+34_719+37delinsAAGG	ENSP00000498044.1:n.719+34_719+37delinsAAGG
ENST00000648374.1:c.774+34_774+37delinsAAGG	ENSP00000497255.1:n.774+34_774+37delinsAAGG
ENST00000649823.1:n.1282+34_1282+37delinsAAGG
ENST00000650101.1:c.756+34_756+37delinsAAGG	ENSP00000496970.1:n.756+34_756+37delinsAAGG
ENST00000650307.1:n.1651+34_1651+37delinsAAGG
ENST00000652429.1:c.825+34_825+37delinsAAGG MANE Select	ENSP00000498786.1:n.825+34_825+37delinsAAGG
ENST00000278715.7:c.825+34_825+37delinsAAGG	ENSP00000278715.3:n.825+34_825+37delinsAAGG
ENST00000392841.1:c.774+34_774+37delinsAAGG	ENSP00000376584.1:n.774+34_774+37delinsAAGG
ENST00000442944.6:c.774+34_774+37delinsAAGG	ENSP00000392041.2:n.774+34_774+37delinsAAGG
ENST00000537841.5:c.774+34_774+37delinsAAGG	ENSP00000444730.1:n.774+34_774+37delinsAAGG
ENST00000539045.1:n.235_238delinsAAGG
ENST00000542044.5:n.1270+34_1270+37delinsAAGG
ENST00000542729.5:c.654+34_654+37delinsAAGG	ENSP00000443058.1:n.654+34_654+37delinsAAGG
ENST00000543090.5:c.732+34_732+37delinsAAGG	ENSP00000445429.1:n.732+34_732+37delinsAAGG
ENST00000543543.5:n.1300+34_1300+37delinsAAGG
ENST00000544182.1:n.1274+34_1274+37delinsAAGG
ENST00000544387.5:c.705+34_705+37delinsAAGG	ENSP00000438424.1:n.705+34_705+37delinsAAGG
ENST00000546226.5:n.1587+34_1587+37delinsAAGG
NM_000190.3:c.825+34_825+37delinsAAGG	NP_000181.2:n.825+34_825+37delinsAAGG
NM_001024382.1:c.774+34_774+37delinsAAGG	NP_001019553.1:n.774+34_774+37delinsAAGG
NM_001258208.1:c.705+34_705+37delinsAAGG	NP_001245137.1:n.705+34_705+37delinsAAGG
NM_001258209.1:c.654+34_654+37delinsAAGG	NP_001245138.1:n.654+34_654+37delinsAAGG
XM_005271531.1:c.774+34_774+37delinsAAGG	XP_005271588.1:n.774+34_774+37delinsAAGG
XM_005271532.1:c.774+34_774+37delinsAAGG	XP_005271589.1:n.774+34_774+37delinsAAGG
XM_005271533.2:c.771+34_771+37delinsAAGG	XP_005271590.1:n.771+34_771+37delinsAAGG
XM_011542796.1:c.660+34_660+37delinsAAGG	XP_011541098.1:n.660+34_660+37delinsAAGG
NM_000190.4:c.825+34_825+37delinsAAGG MANE Select	NP_000181.2:n.825+34_825+37delinsAAGG
NM_001024382.2:c.774+34_774+37delinsAAGG	NP_001019553.1:n.774+34_774+37delinsAAGG
XM_005271533.3:c.771+34_771+37delinsAAGG	XP_005271590.1:n.771+34_771+37delinsAAGG
XM_017017629.1:c.774+34_774+37delinsAAGG	XP_016873118.1:n.774+34_774+37delinsAAGG
XM_024448460.1:c.651+34_651+37delinsAAGG	XP_024304228.1:n.651+34_651+37delinsAAGG
NM_001258208.2:c.705+34_705+37delinsAAGG	NP_001245137.1:n.705+34_705+37delinsAAGG
NM_001258209.2:c.654+34_654+37delinsAAGG	NP_001245138.1:n.654+34_654+37delinsAAGG