Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1275404_1275405delinsGA , CM000667.2:g.1275404_1275405delinsGA	GRCh38
NC_000005.9:g.1275519_1275520delinsGA , CM000667.1:g.1275519_1275520delinsGA	GRCh37
NC_000005.8:g.1328519_1328520delinsGA	NCBI36
NG_009265.1:g.24643_24644delinsTC , LRG_343:g.24643_24644delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2287-3125_2287-3124delinsTC MANE Select	ENSP00000309572.5:n.2287-3125_2287-3124delinsTC
ENST00000656021.1:c.1833-3125_1833-3124delinsTC	ENSP00000499759.1:n.1833-3125_1833-3124delinsTC
ENST00000310581.9:c.2287-3125_2287-3124delinsTC	ENSP00000309572.5:n.2287-3125_2287-3124delinsTC
ENST00000334602.10:c.2287-3125_2287-3124delinsTC	ENSP00000334346.6:n.2287-3125_2287-3124delinsTC
ENST00000460137.6:c.2250+3236_2250+3237delinsTC	ENSP00000425003.1:n.2250+3236_2250+3237delinsTC
ENST00000484238.6:n.1099+3236_1099+3237delinsTC
ENST00000508104.2:c.2286+3236_2286+3237delinsTC	ENSP00000426042.2:n.2286+3236_2286+3237delinsTC
NM_001193376.1:c.2287-3125_2287-3124delinsTC	NP_001180305.1:n.2287-3125_2287-3124delinsTC
NM_198253.2:c.2287-3125_2287-3124delinsTC , LRG_343t1:c.2287-3125_2287-3124delinsTC	NP_937983.2:n.2287-3125_2287-3124delinsTC
XM_011514104.1:c.757-3125_757-3124delinsTC	XP_011512406.1:n.757-3125_757-3124delinsTC
XM_011514105.1:c.643-3125_643-3124delinsTC	XP_011512407.1:n.643-3125_643-3124delinsTC
XM_011514106.1:c.643-3125_643-3124delinsTC	XP_011512408.1:n.643-3125_643-3124delinsTC
NR_149162.1:n.2344+3236_2344+3237delinsTC
NR_149163.1:n.2308+3236_2308+3237delinsTC
NM_001193376.2:c.2287-3125_2287-3124delinsTC	NP_001180305.1:n.2287-3125_2287-3124delinsTC
NM_198253.3:c.2287-3125_2287-3124delinsTC MANE Select	NP_937983.2:n.2287-3125_2287-3124delinsTC
NR_149162.2:n.2365+3236_2365+3237delinsTC
NR_149163.2:n.2329+3236_2329+3237delinsTC
NM_001193376.3:c.2287-3125_2287-3124delinsTC	NP_001180305.1:n.2287-3125_2287-3124delinsTC
NR_149162.3:n.2365+3236_2365+3237delinsTC
NR_149163.3:n.2329+3236_2329+3237delinsTC