Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1271949_1271951delinsGGA , CM000667.2:g.1271949_1271951delinsGGA	GRCh38
NC_000005.9:g.1272064_1272066delinsGGA , CM000667.1:g.1272064_1272066delinsGGA	GRCh37
NC_000005.8:g.1325064_1325066delinsGGA	NCBI36
NG_009265.1:g.28097_28099delinsTCC , LRG_343:g.28097_28099delinsTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2382+234_2382+236delinsTCC MANE Select	ENSP00000309572.5:n.2382+234_2382+236delinsTCC
ENST00000656021.1:c.1928+234_1928+236delinsTCC	ENSP00000499759.1:n.1928+234_1928+236delinsTCC
ENST00000310581.9:c.2382+234_2382+236delinsTCC	ENSP00000309572.5:n.2382+234_2382+236delinsTCC
ENST00000334602.10:c.2382+234_2382+236delinsTCC	ENSP00000334346.6:n.2382+234_2382+236delinsTCC
ENST00000460137.6:c.2251-3318_2251-3316delinsTCC	ENSP00000425003.1:n.2251-3318_2251-3316delinsTCC
ENST00000484238.6:n.1100-3318_1100-3316delinsTCC
ENST00000508104.2:c.2287-3318_2287-3316delinsTCC	ENSP00000426042.2:n.2287-3318_2287-3316delinsTCC
NM_001193376.1:c.2382+234_2382+236delinsTCC	NP_001180305.1:n.2382+234_2382+236delinsTCC
NM_198253.2:c.2382+234_2382+236delinsTCC , LRG_343t1:c.2382+234_2382+236delinsTCC	NP_937983.2:n.2382+234_2382+236delinsTCC
XM_011514104.1:c.852+234_852+236delinsTCC	XP_011512406.1:n.852+234_852+236delinsTCC
XM_011514105.1:c.738+234_738+236delinsTCC	XP_011512407.1:n.738+234_738+236delinsTCC
XM_011514106.1:c.738+234_738+236delinsTCC	XP_011512408.1:n.738+234_738+236delinsTCC
NR_149162.1:n.2345-3318_2345-3316delinsTCC
NR_149163.1:n.2309-3318_2309-3316delinsTCC
NM_001193376.2:c.2382+234_2382+236delinsTCC	NP_001180305.1:n.2382+234_2382+236delinsTCC
NM_198253.3:c.2382+234_2382+236delinsTCC MANE Select	NP_937983.2:n.2382+234_2382+236delinsTCC
NR_149162.2:n.2366-3318_2366-3316delinsTCC
NR_149163.2:n.2330-3318_2330-3316delinsTCC
NM_001193376.3:c.2382+234_2382+236delinsTCC	NP_001180305.1:n.2382+234_2382+236delinsTCC
NR_149162.3:n.2366-3318_2366-3316delinsTCC
NR_149163.3:n.2330-3318_2330-3316delinsTCC