Canonical Allele Identifier: CA2695215769

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093226_119093230del , CM000673.2:g.119093226_119093230del	GRCh38
NC_000011.9:g.118963936_118963940del , CM000673.1:g.118963936_118963940del	GRCh37
NC_000011.8:g.118469146_118469150del	NCBI36
NG_008093.1:g.13350_13354del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.864_868del	ENSP00000509288.1:p.Ser289ArgfsTer13
ENST00000691144.1:n.3244_3248del
ENST00000691249.1:n.1853_1857del
ENST00000442944.7:c.1011_1015del	ENSP00000392041.3:p.Ser338ArgfsTer13
ENST00000640813.1:c.*266_*270del	ENSP00000491061.1:n.*266_*270del
ENST00000648026.1:c.923_927del	ENSP00000498044.1:n.923_927del
ENST00000648374.1:c.978_982del	ENSP00000497255.1:p.Ser327ArgfsTer13
ENST00000650101.1:c.960_964del	ENSP00000496970.1:p.Ser321ArgfsTer13
ENST00000650307.1:n.1855_1859del
ENST00000652429.1:c.1029_1033del MANE Select	ENSP00000498786.1:p.Ser344ArgfsTer13
ENST00000278715.7:c.1029_1033del	ENSP00000278715.3:p.Ser344ArgfsTer13
ENST00000392841.1:c.978_982del	ENSP00000376584.1:p.Ser327ArgfsTer13
ENST00000442944.6:c.978_982del	ENSP00000392041.2:p.Ser327ArgfsTer13
ENST00000537841.5:c.978_982del	ENSP00000444730.1:p.Ser327ArgfsTer13
ENST00000539045.1:n.528_532del
ENST00000542044.5:n.1474_1478del
ENST00000542729.5:c.858_862del	ENSP00000443058.1:p.Ser287ArgfsTer13
ENST00000543090.5:c.936_940del	ENSP00000445429.1:p.Ser313ArgfsTer13
ENST00000543543.5:n.1504_1508del
ENST00000544182.1:n.1478_1482del
ENST00000544387.5:c.909_913del	ENSP00000438424.1:p.Ser304ArgfsTer13
ENST00000546226.5:n.1791_1795del
NM_000190.3:c.1029_1033del	NP_000181.2:p.Ser344ArgfsTer13
NM_001024382.1:c.978_982del	NP_001019553.1:p.Ser327ArgfsTer13
NM_001258208.1:c.909_913del	NP_001245137.1:p.Ser304ArgfsTer13
NM_001258209.1:c.858_862del	NP_001245138.1:p.Ser287ArgfsTer13
XM_005271531.1:c.978_982del	XP_005271588.1:p.Ser327ArgfsTer13
XM_005271532.1:c.978_982del	XP_005271589.1:p.Ser327ArgfsTer13
XM_005271533.2:c.975_979del	XP_005271590.1:p.Ser326ArgfsTer13
XM_011542796.1:c.864_868del	XP_011541098.1:p.Ser289ArgfsTer13
NM_000190.4:c.1029_1033del MANE Select	NP_000181.2:p.Ser344ArgfsTer13
NM_001024382.2:c.978_982del	NP_001019553.1:p.Ser327ArgfsTer13
XM_005271533.3:c.975_979del	XP_005271590.1:p.Ser326ArgfsTer13
XM_017017629.1:c.978_982del	XP_016873118.1:p.Ser327ArgfsTer13
XM_024448460.1:c.855_859del	XP_024304228.1:p.Ser286ArgfsTer13
NM_001258208.2:c.909_913del	NP_001245137.1:p.Ser304ArgfsTer13
NM_001258209.2:c.858_862del	NP_001245138.1:p.Ser287ArgfsTer13