Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38447049_38447055delinsTAAAATA , CM000681.2:g.38447049_38447055delinsTAAAATA	GRCh38
NC_000019.9:g.38937689_38937695delinsTAAAATA , CM000681.1:g.38937689_38937695delinsTAAAATA	GRCh37
NC_000019.8:g.43629529_43629535delinsTAAAATA	NCBI36
NG_008866.1:g.18350_18356delinsTAAAATA , LRG_766:g.18350_18356delinsTAAAATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.800+281_800+287delinsTAAAATA	ENSP00000471601.2:n.800+281_800+287delinsTAAAATA
ENST00000359596.8:c.800+281_800+287delinsTAAAATA MANE Select	ENSP00000352608.2:n.800+281_800+287delinsTAAAATA
ENST00000355481.8:c.800+281_800+287delinsTAAAATA	ENSP00000347667.3:n.800+281_800+287delinsTAAAATA
ENST00000359596.7:c.800+281_800+287delinsTAAAATA	ENSP00000352608.2:n.800+281_800+287delinsTAAAATA
ENST00000360985.7:c.800+281_800+287delinsTAAAATA	ENSP00000354254.4:n.800+281_800+287delinsTAAAATA
NM_000540.2:c.800+281_800+287delinsTAAAATA , LRG_766t1:c.800+281_800+287delinsTAAAATA	NP_000531.2:n.800+281_800+287delinsTAAAATA
NM_001042723.1:c.800+281_800+287delinsTAAAATA	NP_001036188.1:n.800+281_800+287delinsTAAAATA
XM_006723317.1:c.800+281_800+287delinsTAAAATA	XP_006723380.1:n.800+281_800+287delinsTAAAATA
XM_006723319.1:c.800+281_800+287delinsTAAAATA	XP_006723382.1:n.800+281_800+287delinsTAAAATA
XM_011527204.1:c.800+281_800+287delinsTAAAATA	XP_011525506.1:n.800+281_800+287delinsTAAAATA
XM_011527205.1:c.800+281_800+287delinsTAAAATA	XP_011525507.1:n.800+281_800+287delinsTAAAATA
XM_006723317.2:c.800+281_800+287delinsTAAAATA	XP_006723380.1:n.800+281_800+287delinsTAAAATA
XM_006723319.2:c.800+281_800+287delinsTAAAATA	XP_006723382.1:n.800+281_800+287delinsTAAAATA
XM_011527205.2:c.800+281_800+287delinsTAAAATA	XP_011525507.1:n.800+281_800+287delinsTAAAATA
XR_001753735.1:n.883+281_883+287delinsTAAAATA
NM_000540.3:c.800+281_800+287delinsTAAAATA MANE Select	NP_000531.2:n.800+281_800+287delinsTAAAATA
NM_001042723.2:c.800+281_800+287delinsTAAAATA	NP_001036188.1:n.800+281_800+287delinsTAAAATA