Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392002_6392007dup , CM000673.2:g.6392002_6392007dup	GRCh38
NC_000011.9:g.6413232_6413237dup , CM000673.1:g.6413232_6413237dup	GRCh37
NC_000011.8:g.6369808_6369813dup	NCBI36
NG_011780.1:g.6578_6583dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.937_942dup MANE Select	ENSP00000340409.4:p.Val314_Tyr315insProVal
ENST00000342245.8:c.937_942dup	ENSP00000340409.4:p.Val314_Tyr315insProVal
ENST00000526280.1:c.126_131dup
ENST00000527275.5:c.934_939dup	ENSP00000435350.1:p.Val313_Tyr314insProVal
ENST00000530395.1:c.118_123dup	ENSP00000431479.1:p.Val41_Tyr42insProVal
ENST00000531303.5:c.438+499_438+504dup	ENSP00000432625.1:n.438+499_438+504dup
ENST00000533123.5:c.937_942dup	ENSP00000435950.1:p.Val314_Tyr315insProVal
ENST00000533196.1:n.375-4_376dup
ENST00000534405.5:c.937_942dup	ENSP00000434353.1:p.Val314_Tyr315insProVal
NM_000543.4:c.937_942dup	NP_000534.3:p.Val314_Tyr315insProVal
NM_001007593.2:c.934_939dup	NP_001007594.2:p.Val313_Tyr314insProVal
XM_005253075.3:c.937_942dup	XP_005253132.1:p.Val314_Tyr315insProVal
XM_011520303.1:c.937_942dup	XP_011518605.1:p.Val314_Tyr315insProVal
XM_011520304.1:c.937_942dup	XP_011518606.1:p.Val314_Tyr315insProVal
XR_930886.1:n.1235_1240dup
NM_001318087.1:c.937_942dup	NP_001305016.1:p.Val314_Tyr315insProVal
NM_001318088.1:c.-25_-20dup	NP_001305017.1:n.-25_-20dup
NM_001365135.1:c.937_942dup	NP_001352064.1:p.Val314_Tyr315insProVal
NR_027400.2:n.1122_1127dup
NR_134502.1:n.623+499_623+504dup
XM_011520304.2:c.937_942dup	XP_011518606.1:p.Val314_Tyr315insProVal
XR_001747940.2:n.1062_1067dup
XR_002957158.1:n.1062_1067dup
NM_000543.5:c.937_942dup MANE Select	NP_000534.3:p.Val314_Tyr315insProVal
NM_001007593.3:c.934_939dup	NP_001007594.2:p.Val313_Tyr314insProVal
NM_001318087.2:c.937_942dup	NP_001305016.1:p.Val314_Tyr315insProVal
NM_001318088.2:c.-25_-20dup	NP_001305017.1:n.-25_-20dup
NM_001365135.2:c.937_942dup	NP_001352064.1:p.Val314_Tyr315insProVal
NR_027400.3:n.1062_1067dup
NR_134502.2:n.563+499_563+504dup