Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223824_7223825delinsGA , CM000679.2:g.7223824_7223825delinsGA	GRCh38
NC_000017.10:g.7127143_7127144delinsGA , CM000679.1:g.7127143_7127144delinsGA	GRCh37
NC_000017.9:g.7067867_7067868delinsGA	NCBI36
NG_007975.1:g.8991_8992delinsGA
NG_008391.2:g.1226_1227delinsTC
NG_033038.1:g.15720_15721delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1281_1282delinsGA MANE Select	ENSP00000349297.5:p.Trp427=
ENST00000322910.9:c.1236_1237delinsGA	ENSP00000325395.5:n.1236_1237delinsGA
ENST00000350303.9:c.1215_1216delinsGA	ENSP00000344152.5:p.Trp405=
ENST00000356839.9:c.1281_1282delinsGA	ENSP00000349297.5:p.Trp427=
ENST00000542255.6:c.139_140delinsGA
ENST00000543245.6:c.1350_1351delinsGA	ENSP00000438689.2:p.Trp450=
ENST00000578579.2:n.452_453delinsGA
ENST00000578711.1:n.320_321delinsGA
ENST00000578824.5:n.697_698delinsGA
ENST00000579425.5:n.305_306delinsGA
ENST00000579546.1:c.118_119delinsGA
ENST00000583850.5:n.56_57delinsGA
ENST00000583858.5:c.310_311delinsGA
ENST00000585203.6:n.489_490delinsGA
NM_000018.3:c.1281_1282delinsGA	NP_000009.1:p.Trp427=
NM_001033859.2:c.1215_1216delinsGA	NP_001029031.1:p.Trp405=
NM_001270447.1:c.1350_1351delinsGA	NP_001257376.1:p.Trp450=
NM_001270448.1:c.1053_1054delinsGA	NP_001257377.1:p.Trp351=
XM_006721516.2:c.1281_1282delinsGA	XP_006721579.2:p.Trp427=
XM_011523829.1:c.1281_1282delinsGA	XP_011522131.1:p.Trp427=
XM_011523830.1:c.1281_1282delinsGA	XP_011522132.1:p.Trp427=
XR_934021.1:n.1388_1389delinsGA
XR_934022.1:n.1388_1389delinsGA
XR_934023.1:n.1388_1389delinsGA
XM_006721516.3:c.1281_1282delinsGA	XP_006721579.2:p.Trp427=
XM_011523829.2:c.1281_1282delinsGA	XP_011522131.1:p.Trp427=
XM_011523830.2:c.1281_1282delinsGA	XP_011522132.1:p.Trp427=
XM_024450741.1:c.1281_1282delinsGA	XP_024306509.1:p.Trp427=
XR_934021.2:n.1340_1341delinsGA
XR_934022.2:n.1340_1341delinsGA
XR_934023.2:n.1340_1341delinsGA
NM_000018.4:c.1281_1282delinsGA MANE Select	NP_000009.1:p.Trp427=
NM_001033859.3:c.1215_1216delinsGA	NP_001029031.1:p.Trp405=
NM_001270447.2:c.1350_1351delinsGA	NP_001257376.1:p.Trp450=
NM_001270448.2:c.1053_1054delinsGA	NP_001257377.1:p.Trp351=