Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1272020_1272022delinsGCT , CM000667.2:g.1272020_1272022delinsGCT	GRCh38
NC_000005.9:g.1272135_1272137delinsGCT , CM000667.1:g.1272135_1272137delinsGCT	GRCh37
NC_000005.8:g.1325135_1325137delinsGCT	NCBI36
NG_009265.1:g.28026_28028delinsAGC , LRG_343:g.28026_28028delinsAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2382+163_2382+165delinsAGC MANE Select	ENSP00000309572.5:n.2382+163_2382+165delinsAGC
ENST00000656021.1:c.1928+163_1928+165delinsAGC	ENSP00000499759.1:n.1928+163_1928+165delinsAGC
ENST00000310581.9:c.2382+163_2382+165delinsAGC	ENSP00000309572.5:n.2382+163_2382+165delinsAGC
ENST00000334602.10:c.2382+163_2382+165delinsAGC	ENSP00000334346.6:n.2382+163_2382+165delinsAGC
ENST00000460137.6:c.2251-3389_2251-3387delinsAGC	ENSP00000425003.1:n.2251-3389_2251-3387delinsAGC
ENST00000484238.6:n.1100-3389_1100-3387delinsAGC
ENST00000508104.2:c.2287-3389_2287-3387delinsAGC	ENSP00000426042.2:n.2287-3389_2287-3387delinsAGC
NM_001193376.1:c.2382+163_2382+165delinsAGC	NP_001180305.1:n.2382+163_2382+165delinsAGC
NM_198253.2:c.2382+163_2382+165delinsAGC , LRG_343t1:c.2382+163_2382+165delinsAGC	NP_937983.2:n.2382+163_2382+165delinsAGC
XM_011514104.1:c.852+163_852+165delinsAGC	XP_011512406.1:n.852+163_852+165delinsAGC
XM_011514105.1:c.738+163_738+165delinsAGC	XP_011512407.1:n.738+163_738+165delinsAGC
XM_011514106.1:c.738+163_738+165delinsAGC	XP_011512408.1:n.738+163_738+165delinsAGC
NR_149162.1:n.2345-3389_2345-3387delinsAGC
NR_149163.1:n.2309-3389_2309-3387delinsAGC
NM_001193376.2:c.2382+163_2382+165delinsAGC	NP_001180305.1:n.2382+163_2382+165delinsAGC
NM_198253.3:c.2382+163_2382+165delinsAGC MANE Select	NP_937983.2:n.2382+163_2382+165delinsAGC
NR_149162.2:n.2366-3389_2366-3387delinsAGC
NR_149163.2:n.2330-3389_2330-3387delinsAGC
NM_001193376.3:c.2382+163_2382+165delinsAGC	NP_001180305.1:n.2382+163_2382+165delinsAGC
NR_149162.3:n.2366-3389_2366-3387delinsAGC
NR_149163.3:n.2330-3389_2330-3387delinsAGC