Canonical Allele Identifier: CA2003793399

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093188_119093189delinsGC , CM000673.2:g.119093188_119093189delinsGC	GRCh38
NC_000011.9:g.118963898_118963899delinsGC , CM000673.1:g.118963898_118963899delinsGC	GRCh37
NC_000011.8:g.118469108_118469109delinsGC	NCBI36
NG_008093.1:g.13312_13313delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.826_827delinsGC	ENSP00000509288.1:p.Ala276=
ENST00000691144.1:n.3206_3207delinsGC
ENST00000691249.1:n.1815_1816delinsGC
ENST00000442944.7:c.973_974delinsGC	ENSP00000392041.3:p.Ala325=
ENST00000640813.1:c.*228_*229delinsGC	ENSP00000491061.1:n.*228_*229delinsGC
ENST00000648026.1:c.885_886delinsGC	ENSP00000498044.1:n.885_886delinsGC
ENST00000648374.1:c.940_941delinsGC	ENSP00000497255.1:p.Ala314=
ENST00000650101.1:c.922_923delinsGC	ENSP00000496970.1:p.Ala308=
ENST00000650307.1:n.1817_1818delinsGC
ENST00000652429.1:c.991_992delinsGC MANE Select	ENSP00000498786.1:p.Ala331=
ENST00000278715.7:c.991_992delinsGC	ENSP00000278715.3:p.Ala331=
ENST00000392841.1:c.940_941delinsGC	ENSP00000376584.1:p.Ala314=
ENST00000442944.6:c.940_941delinsGC	ENSP00000392041.2:p.Ala314=
ENST00000537841.5:c.940_941delinsGC	ENSP00000444730.1:p.Ala314=
ENST00000539045.1:n.490_491delinsGC
ENST00000542044.5:n.1436_1437delinsGC
ENST00000542729.5:c.820_821delinsGC	ENSP00000443058.1:p.Ala274=
ENST00000543090.5:c.898_899delinsGC	ENSP00000445429.1:p.Ala300=
ENST00000543543.5:n.1466_1467delinsGC
ENST00000544182.1:n.1440_1441delinsGC
ENST00000544387.5:c.871_872delinsGC	ENSP00000438424.1:p.Ala291=
ENST00000546226.5:n.1753_1754delinsGC
NM_000190.3:c.991_992delinsGC	NP_000181.2:p.Ala331=
NM_001024382.1:c.940_941delinsGC	NP_001019553.1:p.Ala314=
NM_001258208.1:c.871_872delinsGC	NP_001245137.1:p.Ala291=
NM_001258209.1:c.820_821delinsGC	NP_001245138.1:p.Ala274=
XM_005271531.1:c.940_941delinsGC	XP_005271588.1:p.Ala314=
XM_005271532.1:c.940_941delinsGC	XP_005271589.1:p.Ala314=
XM_005271533.2:c.937_938delinsGC	XP_005271590.1:p.Ala313=
XM_011542796.1:c.826_827delinsGC	XP_011541098.1:p.Ala276=
NM_000190.4:c.991_992delinsGC MANE Select	NP_000181.2:p.Ala331=
NM_001024382.2:c.940_941delinsGC	NP_001019553.1:p.Ala314=
XM_005271533.3:c.937_938delinsGC	XP_005271590.1:p.Ala313=
XM_017017629.1:c.940_941delinsGC	XP_016873118.1:p.Ala314=
XM_024448460.1:c.817_818delinsGC	XP_024304228.1:p.Ala273=
NM_001258208.2:c.871_872delinsGC	NP_001245137.1:p.Ala291=
NM_001258209.2:c.820_821delinsGC	NP_001245138.1:p.Ala274=