Allele Registry

HGVS	Genome Assembly
NC_000014.9:g.23421094_23421107delinsTCAGGAGGGTCCAC , CM000676.2:g.23421094_23421107delinsTCAGGAGGGTCCAC	GRCh38
NC_000014.8:g.23890303_23890316delinsTCAGGAGGGTCCAC , CM000676.1:g.23890303_23890316delinsTCAGGAGGGTCCAC	GRCh37
NC_000014.7:g.22960143_22960156delinsTCAGGAGGGTCCAC	NCBI36
NG_007884.1:g.19555_19568delinsGTGGACCCTCCTGA , LRG_384:g.19555_19568delinsGTGGACCCTCCTGA

HGVS	Amino-acid Change
ENST00000355349.4:c.3246-59_3246-46delinsGTGGACCCTCCTGA MANE Select	ENSP00000347507.3:n.3246-59_3246-46delinsGTGGACCCTCCTGA
ENST00000355349.3:c.3246-59_3246-46delinsGTGGACCCTCCTGA	ENSP00000347507.3:n.3246-59_3246-46delinsGTGGACCCTCCTGA
NM_000257.3:c.3246-59_3246-46delinsGTGGACCCTCCTGA	NP_000248.2:n.3246-59_3246-46delinsGTGGACCCTCCTGA
XR_245686.3:n.3354-59_3354-46delinsGTGGACCCTCCTGA
XM_017021340.1:c.3246-59_3246-46delinsGTGGACCCTCCTGA	XP_016876829.1:n.3246-59_3246-46delinsGTGGACCCTCCTGA
NM_000257.4:c.3246-59_3246-46delinsGTGGACCCTCCTGA MANE Select	NP_000248.2:n.3246-59_3246-46delinsGTGGACCCTCCTGA