Canonical Allele Identifier: CA2003794215

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093642_119093652delinsCTCCTGGTACG , CM000673.2:g.119093642_119093652delinsCTCCTGGTACG	GRCh38
NC_000011.9:g.118964352_118964362delinsCTCCTGGTACG , CM000673.1:g.118964352_118964362delinsCTCCTGGTACG	GRCh37
NC_000011.8:g.118469562_118469572delinsCTCCTGGTACG	NCBI36
NG_008093.1:g.13766_13776delinsCTCCTGGTACG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.*359_*369delinsCTCCTGGTACG	ENSP00000509288.1:n.*359_*369delinsCTCCTGGTACG