Canonical Allele Identifier: CA2695215736

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092991del , CM000673.2:g.119092991del	GRCh38
NC_000011.9:g.118963701del , CM000673.1:g.118963701del	GRCh37
NC_000011.8:g.118468911del	NCBI36
NG_008093.1:g.13115del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.717del	ENSP00000509288.1:p.Met240CysfsTer22
ENST00000691144.1:n.3097del
ENST00000691249.1:n.1706del
ENST00000442944.7:c.864del	ENSP00000392041.3:p.Met289CysfsTer22
ENST00000640813.1:c.*119del	ENSP00000491061.1:n.*119del
ENST00000648026.1:c.776del	ENSP00000498044.1:n.776del
ENST00000648374.1:c.831del	ENSP00000497255.1:p.Met278CysfsTer22
ENST00000650101.1:c.813del	ENSP00000496970.1:p.Met272CysfsTer22
ENST00000650307.1:n.1708del
ENST00000652429.1:c.882del MANE Select	ENSP00000498786.1:p.Met295CysfsTer22
ENST00000278715.7:c.882del	ENSP00000278715.3:p.Met295CysfsTer22
ENST00000392841.1:c.831del	ENSP00000376584.1:p.Met278CysfsTer22
ENST00000442944.6:c.831del	ENSP00000392041.2:p.Met278CysfsTer22
ENST00000537841.5:c.831del	ENSP00000444730.1:p.Met278CysfsTer22
ENST00000539045.1:n.381del
ENST00000542044.5:n.1327del
ENST00000542729.5:c.711del	ENSP00000443058.1:p.Met238CysfsTer22
ENST00000543090.5:c.789del	ENSP00000445429.1:p.Met264CysfsTer22
ENST00000543543.5:n.1357del
ENST00000544182.1:n.1331del
ENST00000544387.5:c.762del	ENSP00000438424.1:p.Met255CysfsTer22
ENST00000546226.5:n.1644del
NM_000190.3:c.882del	NP_000181.2:p.Met295CysfsTer22
NM_001024382.1:c.831del	NP_001019553.1:p.Met278CysfsTer22
NM_001258208.1:c.762del	NP_001245137.1:p.Met255CysfsTer22
NM_001258209.1:c.711del	NP_001245138.1:p.Met238CysfsTer22
XM_005271531.1:c.831del	XP_005271588.1:p.Met278CysfsTer22
XM_005271532.1:c.831del	XP_005271589.1:p.Met278CysfsTer22
XM_005271533.2:c.828del	XP_005271590.1:p.Met277CysfsTer22
XM_011542796.1:c.717del	XP_011541098.1:p.Met240CysfsTer22
NM_000190.4:c.882del MANE Select	NP_000181.2:p.Met295CysfsTer22
NM_001024382.2:c.831del	NP_001019553.1:p.Met278CysfsTer22
XM_005271533.3:c.828del	XP_005271590.1:p.Met277CysfsTer22
XM_017017629.1:c.831del	XP_016873118.1:p.Met278CysfsTer22
XM_024448460.1:c.708del	XP_024304228.1:p.Met237CysfsTer22
NM_001258208.2:c.762del	NP_001245137.1:p.Met255CysfsTer22
NM_001258209.2:c.711del	NP_001245138.1:p.Met238CysfsTer22