Allele Registry

HGVS	Genome Assembly
NC_000012.12:g.102866601_102866605delinsATAGC , CM000674.2:g.102866601_102866605delinsATAGC	GRCh38
NC_000012.11:g.103260379_103260383delinsATAGC , CM000674.1:g.103260379_103260383delinsATAGC	GRCh37
NC_000012.10:g.101784509_101784513delinsATAGC	NCBI36
NG_008690.1:g.55998_56002delinsGCTAT
NG_008690.2:g.96806_96810delinsGCTAT

HGVS	Amino-acid Change
ENST00000553106.6:c.500_504delinsGCTAT MANE Select	ENSP00000448059.1:p.Asn167Ser
ENST00000307000.7:c.485_489delinsGCTAT	ENSP00000303500.2:p.Asn162Ser
ENST00000549111.5:n.596_600delinsGCTAT
ENST00000551988.5:n.530+10857_530+10861delinsGCTAT
ENST00000553106.5:c.500_504delinsGCTAT	ENSP00000448059.1:p.Asn167Ser
NM_000277.1:c.500_504delinsGCTAT	NP_000268.1:p.Asn167Ser
XM_011538422.1:c.500_504delinsGCTAT	XP_011536724.1:p.Asn167Ser
NM_000277.2:c.500_504delinsGCTAT	NP_000268.1:p.Asn167Ser
NM_001354304.1:c.500_504delinsGCTAT	NP_001341233.1:p.Asn167Ser
XM_017019370.2:c.500_504delinsGCTAT	XP_016874859.1:p.Asn167Ser
NM_000277.3:c.500_504delinsGCTAT MANE Select	NP_000268.1:p.Asn167Ser
NM_001354304.2:c.500_504delinsGCTAT	NP_001341233.1:p.Asn167Ser