Canonical Allele Identifier: CA2695215734

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092984_119092985del , CM000673.2:g.119092984_119092985del	GRCh38
NC_000011.9:g.118963694_118963695del , CM000673.1:g.118963694_118963695del	GRCh37
NC_000011.8:g.118468904_118468905del	NCBI36
NG_008093.1:g.13108_13109del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.710_711del	ENSP00000509288.1:p.Gln237ArgfsTer14
ENST00000691144.1:n.3090_3091del
ENST00000691249.1:n.1699_1700del
ENST00000442944.7:c.857_858del	ENSP00000392041.3:p.Gln286ArgfsTer14
ENST00000640813.1:c.*112_*113del	ENSP00000491061.1:n.*112_*113del
ENST00000648026.1:c.769_770del	ENSP00000498044.1:n.769_770del
ENST00000648374.1:c.824_825del	ENSP00000497255.1:p.Gln275ArgfsTer14
ENST00000650101.1:c.806_807del	ENSP00000496970.1:p.Gln269ArgfsTer14
ENST00000650307.1:n.1701_1702del
ENST00000652429.1:c.875_876del MANE Select	ENSP00000498786.1:p.Gln292ArgfsTer14
ENST00000278715.7:c.875_876del	ENSP00000278715.3:p.Gln292ArgfsTer14
ENST00000392841.1:c.824_825del	ENSP00000376584.1:p.Gln275ArgfsTer14
ENST00000442944.6:c.824_825del	ENSP00000392041.2:p.Gln275ArgfsTer14
ENST00000537841.5:c.824_825del	ENSP00000444730.1:p.Gln275ArgfsTer14
ENST00000539045.1:n.374_375del
ENST00000542044.5:n.1320_1321del
ENST00000542729.5:c.704_705del	ENSP00000443058.1:p.Gln235ArgfsTer14
ENST00000543090.5:c.782_783del	ENSP00000445429.1:p.Gln261ArgfsTer14
ENST00000543543.5:n.1350_1351del
ENST00000544182.1:n.1324_1325del
ENST00000544387.5:c.755_756del	ENSP00000438424.1:p.Gln252ArgfsTer14
ENST00000546226.5:n.1637_1638del
NM_000190.3:c.875_876del	NP_000181.2:p.Gln292ArgfsTer14
NM_001024382.1:c.824_825del	NP_001019553.1:p.Gln275ArgfsTer14
NM_001258208.1:c.755_756del	NP_001245137.1:p.Gln252ArgfsTer14
NM_001258209.1:c.704_705del	NP_001245138.1:p.Gln235ArgfsTer14
XM_005271531.1:c.824_825del	XP_005271588.1:p.Gln275ArgfsTer14
XM_005271532.1:c.824_825del	XP_005271589.1:p.Gln275ArgfsTer14
XM_005271533.2:c.821_822del	XP_005271590.1:p.Gln274ArgfsTer14
XM_011542796.1:c.710_711del	XP_011541098.1:p.Gln237ArgfsTer14
NM_000190.4:c.875_876del MANE Select	NP_000181.2:p.Gln292ArgfsTer14
NM_001024382.2:c.824_825del	NP_001019553.1:p.Gln275ArgfsTer14
XM_005271533.3:c.821_822del	XP_005271590.1:p.Gln274ArgfsTer14
XM_017017629.1:c.824_825del	XP_016873118.1:p.Gln275ArgfsTer14
XM_024448460.1:c.701_702del	XP_024304228.1:p.Gln234ArgfsTer14
NM_001258208.2:c.755_756del	NP_001245137.1:p.Gln252ArgfsTer14
NM_001258209.2:c.704_705del	NP_001245138.1:p.Gln235ArgfsTer14