Canonical Allele Identifier: CA2003793241

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093124_119093127delinsTGAG , CM000673.2:g.119093124_119093127delinsTGAG	GRCh38
NC_000011.9:g.118963834_118963837delinsTGAG , CM000673.1:g.118963834_118963837delinsTGAG	GRCh37
NC_000011.8:g.118469044_118469047delinsTGAG	NCBI36
NG_008093.1:g.13248_13251delinsTGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.762_765delinsTGAG	ENSP00000509288.1:p.Pro254=
ENST00000691144.1:n.3142_3145delinsTGAG
ENST00000691249.1:n.1751_1754delinsTGAG
ENST00000442944.7:c.909_912delinsTGAG	ENSP00000392041.3:p.Pro303=
ENST00000640813.1:c.*164_*167delinsTGAG	ENSP00000491061.1:n.*164_*167delinsTGAG
ENST00000648026.1:c.821_824delinsTGAG	ENSP00000498044.1:n.821_824delinsTGAG
ENST00000648374.1:c.876_879delinsTGAG	ENSP00000497255.1:p.Pro292=
ENST00000650101.1:c.858_861delinsTGAG	ENSP00000496970.1:p.Pro286=
ENST00000650307.1:n.1753_1756delinsTGAG
ENST00000652429.1:c.927_930delinsTGAG MANE Select	ENSP00000498786.1:p.Pro309=
ENST00000278715.7:c.927_930delinsTGAG	ENSP00000278715.3:p.Pro309=
ENST00000392841.1:c.876_879delinsTGAG	ENSP00000376584.1:p.Pro292=
ENST00000442944.6:c.876_879delinsTGAG	ENSP00000392041.2:p.Pro292=
ENST00000537841.5:c.876_879delinsTGAG	ENSP00000444730.1:p.Pro292=
ENST00000539045.1:n.426_429delinsTGAG
ENST00000542044.5:n.1372_1375delinsTGAG
ENST00000542729.5:c.756_759delinsTGAG	ENSP00000443058.1:p.Pro252=
ENST00000543090.5:c.834_837delinsTGAG	ENSP00000445429.1:p.Pro278=
ENST00000543543.5:n.1402_1405delinsTGAG
ENST00000544182.1:n.1376_1379delinsTGAG
ENST00000544387.5:c.807_810delinsTGAG	ENSP00000438424.1:p.Pro269=
ENST00000546226.5:n.1689_1692delinsTGAG
NM_000190.3:c.927_930delinsTGAG	NP_000181.2:p.Pro309=
NM_001024382.1:c.876_879delinsTGAG	NP_001019553.1:p.Pro292=
NM_001258208.1:c.807_810delinsTGAG	NP_001245137.1:p.Pro269=
NM_001258209.1:c.756_759delinsTGAG	NP_001245138.1:p.Pro252=
XM_005271531.1:c.876_879delinsTGAG	XP_005271588.1:p.Pro292=
XM_005271532.1:c.876_879delinsTGAG	XP_005271589.1:p.Pro292=
XM_005271533.2:c.873_876delinsTGAG	XP_005271590.1:p.Pro291=
XM_011542796.1:c.762_765delinsTGAG	XP_011541098.1:p.Pro254=
NM_000190.4:c.927_930delinsTGAG MANE Select	NP_000181.2:p.Pro309=
NM_001024382.2:c.876_879delinsTGAG	NP_001019553.1:p.Pro292=
XM_005271533.3:c.873_876delinsTGAG	XP_005271590.1:p.Pro291=
XM_017017629.1:c.876_879delinsTGAG	XP_016873118.1:p.Pro292=
XM_024448460.1:c.753_756delinsTGAG	XP_024304228.1:p.Pro251=
NM_001258208.2:c.807_810delinsTGAG	NP_001245137.1:p.Pro269=
NM_001258209.2:c.756_759delinsTGAG	NP_001245138.1:p.Pro252=