Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1275761_1275762delinsTC , CM000667.2:g.1275761_1275762delinsTC	GRCh38
NC_000005.9:g.1275876_1275877delinsTC , CM000667.1:g.1275876_1275877delinsTC	GRCh37
NC_000005.8:g.1328876_1328877delinsTC	NCBI36
NG_009265.1:g.24286_24287delinsGA , LRG_343:g.24286_24287delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2286+2879_2286+2880delinsGA MANE Select	ENSP00000309572.5:n.2286+2879_2286+2880delinsGA
ENST00000656021.1:c.1832+2879_1832+2880delinsGA	ENSP00000499759.1:n.1832+2879_1832+2880delinsGA
ENST00000310581.9:c.2286+2879_2286+2880delinsGA	ENSP00000309572.5:n.2286+2879_2286+2880delinsGA
ENST00000334602.10:c.2286+2879_2286+2880delinsGA	ENSP00000334346.6:n.2286+2879_2286+2880delinsGA
ENST00000460137.6:c.2250+2879_2250+2880delinsGA	ENSP00000425003.1:n.2250+2879_2250+2880delinsGA
ENST00000484238.6:n.1099+2879_1099+2880delinsGA
ENST00000508104.2:c.2286+2879_2286+2880delinsGA	ENSP00000426042.2:n.2286+2879_2286+2880delinsGA
NM_001193376.1:c.2286+2879_2286+2880delinsGA	NP_001180305.1:n.2286+2879_2286+2880delinsGA
NM_198253.2:c.2286+2879_2286+2880delinsGA , LRG_343t1:c.2286+2879_2286+2880delinsGA	NP_937983.2:n.2286+2879_2286+2880delinsGA
XM_011514104.1:c.756+2879_756+2880delinsGA	XP_011512406.1:n.756+2879_756+2880delinsGA
XM_011514105.1:c.642+2879_642+2880delinsGA	XP_011512407.1:n.642+2879_642+2880delinsGA
XM_011514106.1:c.642+2879_642+2880delinsGA	XP_011512408.1:n.642+2879_642+2880delinsGA
NR_149162.1:n.2344+2879_2344+2880delinsGA
NR_149163.1:n.2308+2879_2308+2880delinsGA
NM_001193376.2:c.2286+2879_2286+2880delinsGA	NP_001180305.1:n.2286+2879_2286+2880delinsGA
NM_198253.3:c.2286+2879_2286+2880delinsGA MANE Select	NP_937983.2:n.2286+2879_2286+2880delinsGA
NR_149162.2:n.2365+2879_2365+2880delinsGA
NR_149163.2:n.2329+2879_2329+2880delinsGA
NM_001193376.3:c.2286+2879_2286+2880delinsGA	NP_001180305.1:n.2286+2879_2286+2880delinsGA
NR_149162.3:n.2365+2879_2365+2880delinsGA
NR_149163.3:n.2329+2879_2329+2880delinsGA