Allele Registry

HGVS	Genome Assembly
NC_000014.9:g.23423489_23423497delinsAGCTCTGGG , CM000676.2:g.23423489_23423497delinsAGCTCTGGG	GRCh38
NC_000014.8:g.23892698_23892706delinsAGCTCTGGG , CM000676.1:g.23892698_23892706delinsAGCTCTGGG	GRCh37
NC_000014.7:g.22962538_22962546delinsAGCTCTGGG	NCBI36
NG_007884.1:g.17165_17173delinsCCCAGAGCT , LRG_384:g.17165_17173delinsCCCAGAGCT

HGVS	Amino-acid Change
ENST00000355349.4:c.3099+50_3099+58delinsCCCAGAGCT MANE Select	ENSP00000347507.3:n.3099+50_3099+58delinsCCCAGAGCT
ENST00000355349.3:c.3099+50_3099+58delinsCCCAGAGCT	ENSP00000347507.3:n.3099+50_3099+58delinsCCCAGAGCT
NM_000257.3:c.3099+50_3099+58delinsCCCAGAGCT	NP_000248.2:n.3099+50_3099+58delinsCCCAGAGCT
XR_245686.3:n.3205+50_3205+58delinsCCCAGAGCT
XM_017021340.1:c.3099+50_3099+58delinsCCCAGAGCT	XP_016876829.1:n.3099+50_3099+58delinsCCCAGAGCT
NM_000257.4:c.3099+50_3099+58delinsCCCAGAGCT MANE Select	NP_000248.2:n.3099+50_3099+58delinsCCCAGAGCT