Canonical Allele Identifier: CA2695215764

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093197_119093215del , CM000673.2:g.119093197_119093215del	GRCh38
NC_000011.9:g.118963907_118963925del , CM000673.1:g.118963907_118963925del	GRCh37
NC_000011.8:g.118469117_118469135del	NCBI36
NG_008093.1:g.13321_13339del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.835_853del	ENSP00000509288.1:p.Leu279ThrfsTer4
ENST00000691144.1:n.3215_3233del
ENST00000691249.1:n.1824_1842del
ENST00000442944.7:c.982_1000del	ENSP00000392041.3:p.Leu328ThrfsTer4
ENST00000640813.1:c.*237_*255del	ENSP00000491061.1:n.*237_*255del
ENST00000648026.1:c.894_912del	ENSP00000498044.1:n.894_912del
ENST00000648374.1:c.949_967del	ENSP00000497255.1:p.Leu317ThrfsTer4
ENST00000650101.1:c.931_949del	ENSP00000496970.1:p.Leu311ThrfsTer4
ENST00000650307.1:n.1826_1844del
ENST00000652429.1:c.1000_1018del MANE Select	ENSP00000498786.1:p.Leu334ThrfsTer4
ENST00000278715.7:c.1000_1018del	ENSP00000278715.3:p.Leu334ThrfsTer4
ENST00000392841.1:c.949_967del	ENSP00000376584.1:p.Leu317ThrfsTer4
ENST00000442944.6:c.949_967del	ENSP00000392041.2:p.Leu317ThrfsTer4
ENST00000537841.5:c.949_967del	ENSP00000444730.1:p.Leu317ThrfsTer4
ENST00000539045.1:n.499_517del
ENST00000542044.5:n.1445_1463del
ENST00000542729.5:c.829_847del	ENSP00000443058.1:p.Leu277ThrfsTer4
ENST00000543090.5:c.907_925del	ENSP00000445429.1:p.Leu303ThrfsTer4
ENST00000543543.5:n.1475_1493del
ENST00000544182.1:n.1449_1467del
ENST00000544387.5:c.880_898del	ENSP00000438424.1:p.Leu294ThrfsTer4
ENST00000546226.5:n.1762_1780del
NM_000190.3:c.1000_1018del	NP_000181.2:p.Leu334ThrfsTer4
NM_001024382.1:c.949_967del	NP_001019553.1:p.Leu317ThrfsTer4
NM_001258208.1:c.880_898del	NP_001245137.1:p.Leu294ThrfsTer4
NM_001258209.1:c.829_847del	NP_001245138.1:p.Leu277ThrfsTer4
XM_005271531.1:c.949_967del	XP_005271588.1:p.Leu317ThrfsTer4
XM_005271532.1:c.949_967del	XP_005271589.1:p.Leu317ThrfsTer4
XM_005271533.2:c.946_964del	XP_005271590.1:p.Leu316ThrfsTer4
XM_011542796.1:c.835_853del	XP_011541098.1:p.Leu279ThrfsTer4
NM_000190.4:c.1000_1018del MANE Select	NP_000181.2:p.Leu334ThrfsTer4
NM_001024382.2:c.949_967del	NP_001019553.1:p.Leu317ThrfsTer4
XM_005271533.3:c.946_964del	XP_005271590.1:p.Leu316ThrfsTer4
XM_017017629.1:c.949_967del	XP_016873118.1:p.Leu317ThrfsTer4
XM_024448460.1:c.826_844del	XP_024304228.1:p.Leu276ThrfsTer4
NM_001258208.2:c.880_898del	NP_001245137.1:p.Leu294ThrfsTer4
NM_001258209.2:c.829_847del	NP_001245138.1:p.Leu277ThrfsTer4