Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.47988896_47988897insGAAAACTACCTTCAAGGTGTTAG , CM000675.2:g.47988896_47988897insGAAAACTACCTTCAAGGTGTTAG	GRCh38
NC_000013.10:g.48563031_48563032insGAAAACTACCTTCAAGGTGTTAG , CM000675.1:g.48563031_48563032insGAAAACTACCTTCAAGGTGTTAG	GRCh37
NC_000013.9:g.47461032_47461033insGAAAACTACCTTCAAGGTGTTAG	NCBI36
NG_008241.1:g.17431_17432insCTAACACCTTGAAGGTAGTTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642944.1:c.182_183insCTAACACCTTGAAGGTAGTTTTC	ENSP00000495674.1:p.Lys62Ter
ENST00000643023.1:c.356_357insCTAACACCTTGAAGGTAGTTTTC	ENSP00000495664.1:p.Lys120Ter
ENST00000643584.1:c.356_357insCTAACACCTTGAAGGTAGTTTTC	ENSP00000494987.1:p.Lys120Ter
ENST00000644338.1:c.356_357insCTAACACCTTGAAGGTAGTTTTC	ENSP00000494723.1:p.Lys120Ter
ENST00000646602.1:c.356_357insCTAACACCTTGAAGGTAGTTTTC	ENSP00000495250.1:p.Lys120Ter
ENST00000646804.1:c.182_183insCTAACACCTTGAAGGTAGTTTTC	ENSP00000493977.1:p.Lys62Ter
ENST00000646932.1:c.356_357insCTAACACCTTGAAGGTAGTTTTC MANE Select	ENSP00000494360.1:p.Lys120Ter
ENST00000647361.1:c.149_150insCTAACACCTTGAAGGTAGTTTTC	ENSP00000494607.1:n.149_150insCTAACACCTTGAAGGTAGTTTTC
ENST00000378654.8:c.356_357insCTAACACCTTGAAGGTAGTTTTC	ENSP00000367923.3:p.Lys120Ter
ENST00000433022.1:c.90+12283_90+12284insCTAACACCTTGAAGGTAGTTTTC	ENSP00000415091.1:n.90+12283_90+12284insCTAACACCTTGAAGGTAGTTT...
ENST00000434484.5:c.146_147insCTAACACCTTGAAGGTAGTTTTC	ENSP00000392771.1:p.Lys50Ter
ENST00000470760.2:c.356_357insCTAACACCTTGAAGGTAGTTTTC	ENSP00000488974.1:p.Lys120Ter
ENST00000497202.6:c.450_451insCTAACACCTTGAAGGTAGTTTTC	ENSP00000489175.1:n.450_451insCTAACACCTTGAAGGTAGTTTTC
NM_003850.2:c.356_357insCTAACACCTTGAAGGTAGTTTTC	NP_003841.1:p.Lys120Ter
XM_011535292.1:c.119_120insCTAACACCTTGAAGGTAGTTTTC	XP_011533594.1:p.Lys41Ter
XM_011535293.1:c.-47_-46insCTAACACCTTGAAGGTAGTTTTC	XP_011533595.1:n.-47_-46insCTAACACCTTGAAGGTAGTTTTC
XR_941688.1:n.400_401insCTAACACCTTGAAGGTAGTTTTC
NM_003850.3:c.356_357insCTAACACCTTGAAGGTAGTTTTC MANE Select	NP_003841.1:p.Lys120Ter