Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834233_23834236delinsTCTC , CM000684.2:g.23834233_23834236delinsTCTC	GRCh38
NC_000022.10:g.24176420_24176423delinsTCTC , CM000684.1:g.24176420_24176423delinsTCTC	GRCh37
NC_000022.9:g.22506420_22506423delinsTCTC	NCBI36
NG_009303.1:g.52271_52274delinsTCTC , LRG_520:g.52271_52274delinsTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.53_56delinsTCTC	ENSP00000263121.8:n.53_56delinsTCTC
ENST00000344921.11:c.53_56delinsTCTC	ENSP00000340883.6:n.53_56delinsTCTC
ENST00000407422.8:c.53_56delinsTCTC	ENSP00000383984.3:n.53_56delinsTCTC
ENST00000644036.2:c.53_56delinsTCTC MANE Select	ENSP00000494049.2:n.53_56delinsTCTC
ENST00000644462.1:c.1929_1932delinsTCTC	ENSP00000494283.1:n.1929_1932delinsTCTC
ENST00000645799.1:n.2533_2536delinsTCTC
ENST00000646723.1:n.3557_3560delinsTCTC
ENST00000647057.1:c.705_708delinsTCTC	ENSP00000494757.1:n.705_708delinsTCTC
ENST00000263121.11:c.53_56delinsTCTC	ENSP00000263121.7:n.53_56delinsTCTC
ENST00000344921.10:c.53_56delinsTCTC	ENSP00000340883.6:n.53_56delinsTCTC
ENST00000407422.7:c.53_56delinsTCTC	ENSP00000383984.3:n.53_56delinsTCTC
NM_001007468.1:c.53_56delinsTCTC	NP_001007469.1:n.53_56delinsTCTC
NM_003073.3:c.53_56delinsTCTC , LRG_520t1:c.53_56delinsTCTC	NP_003064.2:n.53_56delinsTCTC
XM_011530345.1:c.53_56delinsTCTC	XP_011528647.1:n.53_56delinsTCTC
XM_011530346.1:c.53_56delinsTCTC	XP_011528648.1:n.53_56delinsTCTC
NM_001007468.2:c.53_56delinsTCTC	NP_001007469.1:n.53_56delinsTCTC
NM_001317946.1:c.53_56delinsTCTC	NP_001304875.1:n.53_56delinsTCTC
NM_001362877.1:c.53_56delinsTCTC	NP_001349806.1:n.53_56delinsTCTC
NM_003073.4:c.53_56delinsTCTC	NP_003064.2:n.53_56delinsTCTC
NM_001007468.3:c.53_56delinsTCTC	NP_001007469.1:n.53_56delinsTCTC
NM_001317946.2:c.53_56delinsTCTC	NP_001304875.1:n.53_56delinsTCTC
NM_001362877.2:c.53_56delinsTCTC	NP_001349806.1:n.53_56delinsTCTC
NM_003073.5:c.53_56delinsTCTC MANE Select	NP_003064.2:n.53_56delinsTCTC

HGVS	Amino-acid Change
ENST00000263121.12:c.53_56delinsTCTC	ENSP00000263121.8:n.53_56delinsTCTC
ENST00000344921.11:c.53_56delinsTCTC	ENSP00000340883.6:n.53_56delinsTCTC
ENST00000407422.8:c.53_56delinsTCTC	ENSP00000383984.3:n.53_56delinsTCTC
ENST00000644036.2:c.53_56delinsTCTC MANE Select	ENSP00000494049.2:n.53_56delinsTCTC
ENST00000644462.1:c.1929_1932delinsTCTC	ENSP00000494283.1:n.1929_1932delinsTCTC
ENST00000645799.1:n.2533_2536delinsTCTC
ENST00000646723.1:n.3557_3560delinsTCTC
ENST00000647057.1:c.705_708delinsTCTC	ENSP00000494757.1:n.705_708delinsTCTC
ENST00000263121.11:c.53_56delinsTCTC	ENSP00000263121.7:n.53_56delinsTCTC
ENST00000344921.10:c.53_56delinsTCTC	ENSP00000340883.6:n.53_56delinsTCTC
ENST00000407422.7:c.53_56delinsTCTC	ENSP00000383984.3:n.53_56delinsTCTC
NM_001007468.1:c.53_56delinsTCTC	NP_001007469.1:n.53_56delinsTCTC
NM_003073.3:c.53_56delinsTCTC , LRG_520t1:c.53_56delinsTCTC	NP_003064.2:n.53_56delinsTCTC
XM_011530345.1:c.53_56delinsTCTC	XP_011528647.1:n.53_56delinsTCTC
XM_011530346.1:c.53_56delinsTCTC	XP_011528648.1:n.53_56delinsTCTC
NM_001007468.2:c.53_56delinsTCTC	NP_001007469.1:n.53_56delinsTCTC
NM_001317946.1:c.53_56delinsTCTC	NP_001304875.1:n.53_56delinsTCTC
NM_001362877.1:c.53_56delinsTCTC	NP_001349806.1:n.53_56delinsTCTC
NM_003073.4:c.53_56delinsTCTC	NP_003064.2:n.53_56delinsTCTC
NM_001007468.3:c.53_56delinsTCTC	NP_001007469.1:n.53_56delinsTCTC
NM_001317946.2:c.53_56delinsTCTC	NP_001304875.1:n.53_56delinsTCTC
NM_001362877.2:c.53_56delinsTCTC	NP_001349806.1:n.53_56delinsTCTC
NM_003073.5:c.53_56delinsTCTC MANE Select	NP_003064.2:n.53_56delinsTCTC