Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53211469_53211470delinsGC , CM000674.2:g.53211469_53211470delinsGC	GRCh38
NC_000012.11:g.53605253_53605254delinsGC , CM000674.1:g.53605253_53605254delinsGC	GRCh37
NC_000012.10:g.51891520_51891521delinsGC	NCBI36
NG_029822.1:g.25787_25788delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425354.7:c.206_207delinsGC MANE Select	ENSP00000388510.2:n.206_207delinsGC
ENST00000338561.9:c.206_207delinsGC	ENSP00000343698.5:n.206_207delinsGC
ENST00000394426.5:c.206_207delinsGC	ENSP00000377947.2:n.206_207delinsGC
ENST00000425354.6:c.206_207delinsGC	ENSP00000388510.2:n.206_207delinsGC
ENST00000543726.1:c.206_207delinsGC	ENSP00000444335.1:n.206_207delinsGC
ENST00000543762.5:n.1564_1565delinsGC
NM_000966.5:c.206_207delinsGC	NP_000957.1:n.206_207delinsGC
NM_001042728.2:c.206_207delinsGC	NP_001036193.1:n.206_207delinsGC
NM_001243730.1:c.206_207delinsGC	NP_001230659.1:n.206_207delinsGC
NM_001243731.1:c.206_207delinsGC	NP_001230660.1:n.206_207delinsGC
NM_001243732.1:c.206_207delinsGC	NP_001230661.1:n.206_207delinsGC
XM_005269054.2:c.206_207delinsGC	XP_005269111.1:n.206_207delinsGC
XM_005269055.2:c.206_207delinsGC	XP_005269112.1:n.206_207delinsGC
XM_005269056.2:c.206_207delinsGC	XP_005269113.1:n.206_207delinsGC
XM_005269057.1:c.206_207delinsGC	XP_005269114.1:n.206_207delinsGC
XM_011538628.1:c.206_207delinsGC	XP_011536930.1:n.206_207delinsGC
XM_024449112.1:c.206_207delinsGC	XP_024304880.1:n.206_207delinsGC
XM_024449113.1:c.206_207delinsGC	XP_024304881.1:n.206_207delinsGC
XM_024449114.1:c.206_207delinsGC	XP_024304882.1:n.206_207delinsGC
NM_000966.6:c.206_207delinsGC MANE Select	NP_000957.1:n.206_207delinsGC
NM_001042728.3:c.206_207delinsGC	NP_001036193.1:n.206_207delinsGC
NM_001243731.2:c.206_207delinsGC	NP_001230660.1:n.206_207delinsGC
NM_001243732.2:c.206_207delinsGC	NP_001230661.1:n.206_207delinsGC
NM_001243730.2:c.206_207delinsGC	NP_001230659.1:n.206_207delinsGC

HGVS	Amino-acid Change
ENST00000425354.7:c.206_207delinsGC MANE Select	ENSP00000388510.2:n.206_207delinsGC
ENST00000338561.9:c.206_207delinsGC	ENSP00000343698.5:n.206_207delinsGC
ENST00000394426.5:c.206_207delinsGC	ENSP00000377947.2:n.206_207delinsGC
ENST00000425354.6:c.206_207delinsGC	ENSP00000388510.2:n.206_207delinsGC
ENST00000543726.1:c.206_207delinsGC	ENSP00000444335.1:n.206_207delinsGC
ENST00000543762.5:n.1564_1565delinsGC
NM_000966.5:c.206_207delinsGC	NP_000957.1:n.206_207delinsGC
NM_001042728.2:c.206_207delinsGC	NP_001036193.1:n.206_207delinsGC
NM_001243730.1:c.206_207delinsGC	NP_001230659.1:n.206_207delinsGC
NM_001243731.1:c.206_207delinsGC	NP_001230660.1:n.206_207delinsGC
NM_001243732.1:c.206_207delinsGC	NP_001230661.1:n.206_207delinsGC
XM_005269054.2:c.206_207delinsGC	XP_005269111.1:n.206_207delinsGC
XM_005269055.2:c.206_207delinsGC	XP_005269112.1:n.206_207delinsGC
XM_005269056.2:c.206_207delinsGC	XP_005269113.1:n.206_207delinsGC
XM_005269057.1:c.206_207delinsGC	XP_005269114.1:n.206_207delinsGC
XM_011538628.1:c.206_207delinsGC	XP_011536930.1:n.206_207delinsGC
XM_024449112.1:c.206_207delinsGC	XP_024304880.1:n.206_207delinsGC
XM_024449113.1:c.206_207delinsGC	XP_024304881.1:n.206_207delinsGC
XM_024449114.1:c.206_207delinsGC	XP_024304882.1:n.206_207delinsGC
NM_000966.6:c.206_207delinsGC MANE Select	NP_000957.1:n.206_207delinsGC
NM_001042728.3:c.206_207delinsGC	NP_001036193.1:n.206_207delinsGC
NM_001243731.2:c.206_207delinsGC	NP_001230660.1:n.206_207delinsGC
NM_001243732.2:c.206_207delinsGC	NP_001230661.1:n.206_207delinsGC
NM_001243730.2:c.206_207delinsGC	NP_001230659.1:n.206_207delinsGC