Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.124842960_124842965delinsAGTACT , CM000669.2:g.124842960_124842965delinsAGTACT	GRCh38
NC_000007.13:g.124483014_124483019delinsAGTACT , CM000669.1:g.124483014_124483019delinsAGTACT	GRCh37
NC_000007.12:g.124270250_124270255delinsAGTACT	NCBI36
NG_029232.1:g.92019_92024delinsAGTACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357628.8:c.1007-2_1010delinsAGTACT
ENST00000430927.6:c.1007-2_1010delinsAGTACT
ENST00000446993.6:c.614-2_617delinsAGTACT
ENST00000653241.1:c.1007-2_1010delinsAGTACT
ENST00000653274.1:c.1007-2_1010delinsAGTACT
ENST00000653819.1:c.738-2_741delinsAGTACT
ENST00000653892.1:c.649-2_652delinsAGTACT
ENST00000654766.1:c.1007-2_1010delinsAGTACT
ENST00000655761.1:c.1007-2_1010delinsAGTACT
ENST00000657333.1:c.738-2_741delinsAGTACT
ENST00000657892.1:c.876-2_879delinsAGTACT
ENST00000661898.1:c.1007-2_1010delinsAGTACT
ENST00000662531.1:c.902-2_905delinsAGTACT
ENST00000664330.1:c.858-2_861delinsAGTACT
ENST00000664366.1:c.1007-2_1010delinsAGTACT
ENST00000668382.1:c.1007-2_1010delinsAGTACT
ENST00000357628.7:c.1007-2_1010delinsAGTACT
ENST00000393329.5:c.614-2_617delinsAGTACT
ENST00000466483.1:n.285_290delinsAGTACT
ENST00000607932.5:c.1007-2_1010delinsAGTACT
ENST00000608057.5:c.104-2_107delinsAGTACT
ENST00000609106.5:c.1007-2_1010delinsAGTACT
NM_001042594.1:c.614-2_617delinsAGTACT
NM_015450.2:c.1007-2_1010delinsAGTACT
NR_003102.1:n.1728-2_1731delinsAGTACT
NR_003103.1:n.1608-2_1611delinsAGTACT
NR_003104.1:n.1608-2_1611delinsAGTACT
XM_006715917.2:c.1007-2_1010delinsAGTACT
XM_011516006.1:c.614-2_617delinsAGTACT
XM_011516007.1:c.614-2_617delinsAGTACT
XM_006715917.4:c.1007-2_1010delinsAGTACT
XM_017011942.2:c.614-2_617delinsAGTACT
XR_001744618.1:n.1598-2_1601delinsAGTACT
XR_001744619.2:n.1467-2_1470delinsAGTACT
NM_015450.3:c.1007-2_1010delinsAGTACT
NM_001042594.2:c.614-2_617delinsAGTACT
NR_003102.2:n.1570-2_1573delinsAGTACT
NR_003103.2:n.1450-2_1453delinsAGTACT
NR_003104.2:n.1450-2_1453delinsAGTACT