Canonical Allele Identifier: CA2003794035

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093546_119093549delinsGTGT , CM000673.2:g.119093546_119093549delinsGTGT	GRCh38
NC_000011.9:g.118964256_118964259delinsGTGT , CM000673.1:g.118964256_118964259delinsGTGT	GRCh37
NC_000011.8:g.118469466_118469469delinsGTGT	NCBI36
NG_008093.1:g.13670_13673delinsGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.*263_*266delinsGTGT	ENSP00000509288.1:n.*263_*266delinsGTGT
ENST00000652429.1:c.*263_*266delinsGTGT MANE Select	ENSP00000498786.1:n.*263_*266delinsGTGT
ENST00000392841.1:c.*263_*266delinsGTGT	ENSP00000376584.1:n.*263_*266delinsGTGT
NM_000190.3:c.*263_*266delinsGTGT	NP_000181.2:n.*263_*266delinsGTGT
NM_001024382.1:c.*263_*266delinsGTGT	NP_001019553.1:n.*263_*266delinsGTGT
NM_001258208.1:c.*263_*266delinsGTGT	NP_001245137.1:n.*263_*266delinsGTGT
NM_001258209.1:c.*263_*266delinsGTGT	NP_001245138.1:n.*263_*266delinsGTGT
XM_005271531.1:c.*263_*266delinsGTGT	XP_005271588.1:n.*263_*266delinsGTGT
XM_005271532.1:c.*263_*266delinsGTGT	XP_005271589.1:n.*263_*266delinsGTGT
XM_005271533.2:c.*263_*266delinsGTGT	XP_005271590.1:n.*263_*266delinsGTGT
XM_011542796.1:c.*263_*266delinsGTGT	XP_011541098.1:n.*263_*266delinsGTGT
NM_000190.4:c.*263_*266delinsGTGT MANE Select	NP_000181.2:n.*263_*266delinsGTGT
NM_001024382.2:c.*263_*266delinsGTGT	NP_001019553.1:n.*263_*266delinsGTGT
XM_005271533.3:c.*263_*266delinsGTGT	XP_005271590.1:n.*263_*266delinsGTGT
XM_017017629.1:c.*263_*266delinsGTGT	XP_016873118.1:n.*263_*266delinsGTGT
XM_024448460.1:c.*263_*266delinsGTGT	XP_024304228.1:n.*263_*266delinsGTGT
NM_001258208.2:c.*263_*266delinsGTGT	NP_001245137.1:n.*263_*266delinsGTGT
NM_001258209.2:c.*263_*266delinsGTGT	NP_001245138.1:n.*263_*266delinsGTGT