Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33174548_33174551delinsTGATGGGTC , CM000668.2:g.33174548_33174551delinsTGATGGGTC	GRCh38
NC_000006.11:g.33142325_33142328delinsTGATGGGTC , CM000668.1:g.33142325_33142328delinsTGATGGGTC	GRCh37
NC_000006.10:g.33250303_33250306delinsTGATGGGTC	NCBI36
NG_011589.1:g.22918_22921delinsGACCCATCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361917.6:c.979_982delinsGACCCATCA
ENST00000341947.7:c.2406_2409delinsGACCCATCA MANE Select	ENSP00000339915.2:p.Tyr803ThrfsTer13
ENST00000341947.6:c.2406_2409delinsGACCCATCA	ENSP00000339915.2:p.Tyr803ThrfsTer13
ENST00000361917.5:c.2085_2088delinsGACCCATCA	ENSP00000355123.1:p.Tyr696ThrfsTer13
ENST00000374708.8:c.2148_2151delinsGACCCATCA	ENSP00000363840.4:p.Tyr717ThrfsTer13
ENST00000477772.1:n.272+2458_272+2461delinsGACCCATCA
NM_080679.2:c.2085_2088delinsGACCCATCA	NP_542410.2:p.Tyr696ThrfsTer13
NM_080680.2:c.2406_2409delinsGACCCATCA	NP_542411.2:p.Tyr803ThrfsTer13
NM_080681.2:c.2148_2151delinsGACCCATCA	NP_542412.2:p.Tyr717ThrfsTer13
XM_011514298.1:c.1560_1563delinsGACCCATCA	XP_011512600.1:p.Tyr521ThrfsTer13
XM_011514299.1:c.1692_1695delinsGACCCATCA	XP_011512601.1:p.Tyr565ThrfsTer13
XM_011514300.1:c.1512_1515delinsGACCCATCA	XP_011512602.1:p.Tyr505ThrfsTer13
XM_011514301.1:c.1449_1452delinsGACCCATCA	XP_011512603.1:p.Tyr484ThrfsTer13
XM_011514302.1:c.1293_1296delinsGACCCATCA	XP_011512604.1:p.Tyr432ThrfsTer13
XM_011514299.2:c.1692_1695delinsGACCCATCA	XP_011512601.1:p.Tyr565ThrfsTer13
XM_011514300.2:c.1512_1515delinsGACCCATCA	XP_011512602.1:p.Tyr505ThrfsTer13
XM_011514302.2:c.1293_1296delinsGACCCATCA	XP_011512604.1:p.Tyr432ThrfsTer13
XM_017010250.1:c.2406_2409delinsGACCCATCA	XP_016865739.1:p.Tyr803ThrfsTer13
XM_017010251.2:c.1224_1227delinsGACCCATCA	XP_016865740.1:p.Tyr409ThrfsTer13
NM_080680.3:c.2406_2409delinsGACCCATCA MANE Select	NP_542411.2:p.Tyr803ThrfsTer13
NM_080681.3:c.2148_2151delinsGACCCATCA	NP_542412.2:p.Tyr717ThrfsTer13
NM_080679.3:c.2085_2088delinsGACCCATCA	NP_542410.2:p.Tyr696ThrfsTer13