Canonical Allele Identifier: CA2200880640

Gene: HBA2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173146_173153delinsCACCAAGA , CM000678.2:g.173146_173153delinsCACCAAGA	GRCh38
NC_000016.9:g.223145_223152delinsCACCAAGA , CM000678.1:g.223145_223152delinsCACCAAGA	GRCh37
NC_000016.8:g.163145_163152delinsCACCAAGA	NCBI36
NG_000006.1:g.34009_34016delinsCACCAAGA
NG_059186.1:g.1496_1503delinsCACCAAGA
NG_059271.1:g.5300_5307delinsCACCAAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.117_124delinsCACCAAGA MANE Select	ENSP00000251595.6:p.Thr39=
ENST00000251595.10:c.117_124delinsCACCAAGA	ENSP00000251595.6:p.Thr39=
ENST00000397806.1:c.21_28delinsCACCAAGA	ENSP00000380908.1:p.Thr7=
ENST00000482565.1:n.253_260delinsCACCAAGA
ENST00000484216.1:n.86_93delinsCACCAAGA
NM_000517.4:c.117_124delinsCACCAAGA	NP_000508.1:p.Thr39=
NM_000517.6:c.117_124delinsCACCAAGA MANE Select	NP_000508.1:p.Thr39=