Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104884525_104884526delinsAG , CM000671.2:g.104884525_104884526delinsAG	GRCh38
NC_000009.11:g.107646806_107646807delinsAG , CM000671.1:g.107646806_107646807delinsAG	GRCh37
NC_000009.10:g.106686627_106686628delinsAG	NCBI36
NG_007981.1:g.48630_48631delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.203_204delinsCT MANE Select	ENSP00000363868.3:p.Pro68=
ENST00000678995.1:c.203_204delinsCT	ENSP00000504612.1:p.Pro68=
ENST00000374733.1:c.23_24delinsCT	ENSP00000363865.1:p.Pro8=
ENST00000374736.7:c.203_204delinsCT	ENSP00000363868.3:p.Pro68=
ENST00000423487.6:c.203_204delinsCT	ENSP00000416623.2:p.Pro68=
NM_005502.3:c.203_204delinsCT	NP_005493.2:p.Pro68=
XM_005251773.1:c.203_204delinsCT	XP_005251830.1:p.Pro68=
XM_005251776.1:c.23_24delinsCT	XP_005251833.1:p.Pro8=
XM_011518339.1:c.278_279delinsCT	XP_011516641.1:p.Pro93=
XM_011518340.1:c.278_279delinsCT	XP_011516642.1:p.Pro93=
XM_011518341.1:c.278_279delinsCT	XP_011516643.1:p.Pro93=
XM_011518342.1:c.-61-1369_-61-1368delinsCT	XP_011516644.1:n.-61-1369_-61-1368delinsCT
XM_011518343.1:c.278_279delinsCT	XP_011516645.1:p.Pro93=
XM_011518344.1:c.278_279delinsCT	XP_011516646.1:p.Pro93=
XM_005251773.3:c.203_204delinsCT	XP_005251830.1:p.Pro68=
XM_005251776.3:c.23_24delinsCT	XP_005251833.1:p.Pro8=
XM_011518339.3:c.278_279delinsCT	XP_011516641.1:p.Pro93=
XM_011518340.3:c.278_279delinsCT	XP_011516642.1:p.Pro93=
XM_011518341.3:c.278_279delinsCT	XP_011516643.1:p.Pro93=
XM_011518342.3:c.-61-1369_-61-1368delinsCT	XP_011516644.1:n.-61-1369_-61-1368delinsCT
XM_011518344.2:c.278_279delinsCT	XP_011516646.1:p.Pro93=
XM_017014378.2:c.278_279delinsCT	XP_016869867.1:p.Pro93=
XM_017014379.2:c.278_279delinsCT	XP_016869868.1:p.Pro93=
XM_017014380.2:c.278_279delinsCT	XP_016869869.1:p.Pro93=
XM_017014381.2:c.278_279delinsCT	XP_016869870.1:p.Pro93=
XM_017014382.2:c.140_141delinsCT	XP_016869871.1:p.Pro47=
XR_001746223.1:n.591_592delinsCT
NM_005502.4:c.203_204delinsCT MANE Select	NP_005493.2:p.Pro68=