Canonical Allele Identifier: CA2003792220

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092741_119092742delinsAG , CM000673.2:g.119092741_119092742delinsAG	GRCh38
NC_000011.9:g.118963451_118963452delinsAG , CM000673.1:g.118963451_118963452delinsAG	GRCh37
NC_000011.8:g.118468661_118468662delinsAG	NCBI36
NG_008093.1:g.12865_12866delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.607-17_607-16delinsAG	ENSP00000509288.1:n.607-17_607-16delinsAG
ENST00000691144.1:n.2970_2971delinsAG
ENST00000691249.1:n.1596-17_1596-16delinsAG
ENST00000442944.7:c.754-17_754-16delinsAG	ENSP00000392041.3:n.754-17_754-16delinsAG
ENST00000640813.1:c.*9-17_*9-16delinsAG	ENSP00000491061.1:n.*9-17_*9-16delinsAG
ENST00000648026.1:c.666-17_666-16delinsAG	ENSP00000498044.1:n.666-17_666-16delinsAG
ENST00000648374.1:c.721-17_721-16delinsAG	ENSP00000497255.1:n.721-17_721-16delinsAG
ENST00000649823.1:n.1229-17_1229-16delinsAG
ENST00000650101.1:c.703-17_703-16delinsAG	ENSP00000496970.1:n.703-17_703-16delinsAG
ENST00000650307.1:n.1598-17_1598-16delinsAG
ENST00000652429.1:c.772-17_772-16delinsAG MANE Select	ENSP00000498786.1:n.772-17_772-16delinsAG
ENST00000278715.7:c.772-17_772-16delinsAG	ENSP00000278715.3:n.772-17_772-16delinsAG
ENST00000392841.1:c.721-17_721-16delinsAG	ENSP00000376584.1:n.721-17_721-16delinsAG
ENST00000442944.6:c.721-17_721-16delinsAG	ENSP00000392041.2:n.721-17_721-16delinsAG
ENST00000537841.5:c.721-17_721-16delinsAG	ENSP00000444730.1:n.721-17_721-16delinsAG
ENST00000539045.1:n.131_132delinsAG
ENST00000542044.5:n.1217-17_1217-16delinsAG
ENST00000542729.5:c.601-17_601-16delinsAG	ENSP00000443058.1:n.601-17_601-16delinsAG
ENST00000543090.5:c.679-17_679-16delinsAG	ENSP00000445429.1:n.679-17_679-16delinsAG
ENST00000543543.5:n.1247-17_1247-16delinsAG
ENST00000544182.1:n.1204_1205delinsAG
ENST00000544387.5:c.652-17_652-16delinsAG	ENSP00000438424.1:n.652-17_652-16delinsAG
ENST00000546226.5:n.1517_1518delinsAG
NM_000190.3:c.772-17_772-16delinsAG	NP_000181.2:n.772-17_772-16delinsAG
NM_001024382.1:c.721-17_721-16delinsAG	NP_001019553.1:n.721-17_721-16delinsAG
NM_001258208.1:c.652-17_652-16delinsAG	NP_001245137.1:n.652-17_652-16delinsAG
NM_001258209.1:c.601-17_601-16delinsAG	NP_001245138.1:n.601-17_601-16delinsAG
XM_005271531.1:c.721-17_721-16delinsAG	XP_005271588.1:n.721-17_721-16delinsAG
XM_005271532.1:c.721-17_721-16delinsAG	XP_005271589.1:n.721-17_721-16delinsAG
XM_005271533.2:c.718-17_718-16delinsAG	XP_005271590.1:n.718-17_718-16delinsAG
XM_011542796.1:c.607-17_607-16delinsAG	XP_011541098.1:n.607-17_607-16delinsAG
NM_000190.4:c.772-17_772-16delinsAG MANE Select	NP_000181.2:n.772-17_772-16delinsAG
NM_001024382.2:c.721-17_721-16delinsAG	NP_001019553.1:n.721-17_721-16delinsAG
XM_005271533.3:c.718-17_718-16delinsAG	XP_005271590.1:n.718-17_718-16delinsAG
XM_017017629.1:c.721-17_721-16delinsAG	XP_016873118.1:n.721-17_721-16delinsAG
XM_024448460.1:c.598-17_598-16delinsAG	XP_024304228.1:n.598-17_598-16delinsAG
NM_001258208.2:c.652-17_652-16delinsAG	NP_001245137.1:n.652-17_652-16delinsAG
NM_001258209.2:c.601-17_601-16delinsAG	NP_001245138.1:n.601-17_601-16delinsAG