Canonical Allele Identifier: CA2511400248

Gene: SERPINC1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909645_173909646insCTCTTAATATCTGTCTCTTTGCTCTGAATTCCAAT , CM000663.2:g.173909645_173909646insCTCTTAATATCTGTCTCTTTGCTCTGAATTCCAAT	GRCh38
NC_000001.10:g.173878783_173878784insCTCTTAATATCTGTCTCTTTGCTCTGAATTCCAAT , CM000663.1:g.173878783_173878784insCTCTTAATATCTGTCTCTTTGCTCTGAATTCCAAT	GRCh37
NC_000001.9:g.172145406_172145407insCTCTTAATATCTGTCTCTTTGCTCTGAATTCCAAT	NCBI36
NG_012462.1:g.12733_12734insATTGGAATTCAGAGCAAAGAGACAGATATTAAGAG , LRG_577:g.12733_12734insATTGGAATTCAGAGCAAAGAGACAGATATTAAGAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000367698.4:c.1059_1060insATTGGAATTCAGAGCAAAGAGACAGATATTAAGAG MANE Select	ENSP00000356671.3:p.Arg354IlefsTer22
ENST00000367698.3:c.1059_1060insATTGGAATTCAGAGCAAAGAGACAGATATTAAGAG	ENSP00000356671.3:p.Arg354IlefsTer22
ENST00000617423.4:c.560-2153_560-2152insATTGGAATTCAGAGCAAAGAGACAGATATTAAGAG	ENSP00000478688.1:n.560-2153_560-2152insA...
NM_000488.3:c.1059_1060insATTGGAATTCAGAGCAAAGAGACAGATATTAAGAG , LRG_577t1:c.1059_1060insATTGGAATTCAGAGCAAAGAGACAGATATTAAGAG	NP_000479.1:p.Arg354IlefsTer22
XM_005245198.2:c.915_916insATTGGAATTCAGAGCAAAGAGACAGATATTAAGAG	XP_005245255.1:p.Arg306IlefsTer22
NM_001365052.1:c.915_916insATTGGAATTCAGAGCAAAGAGACAGATATTAAGAG	NP_001351981.1:p.Arg306IlefsTer22
NM_000488.4:c.1059_1060insATTGGAATTCAGAGCAAAGAGACAGATATTAAGAG MANE Select	NP_000479.1:p.Arg354IlefsTer22
NM_001365052.2:c.915_916insATTGGAATTCAGAGCAAAGAGACAGATATTAAGAG	NP_001351981.1:p.Arg306IlefsTer22
NM_001386302.1:c.1182_1183insATTGGAATTCAGAGCAAAGAGACAGATATTAAGAG	NP_001373231.1:p.Arg395IlefsTer22
NM_001386303.1:c.1140_1141insATTGGAATTCAGAGCAAAGAGACAGATATTAAGAG	NP_001373232.1:p.Arg381IlefsTer22
NM_001386304.1:c.1038_1039insATTGGAATTCAGAGCAAAGAGACAGATATTAAGAG	NP_001373233.1:p.Arg347IlefsTer22
NM_001386305.1:c.1002_1003insATTGGAATTCAGAGCAAAGAGACAGATATTAAGAG	NP_001373234.1:p.Arg335IlefsTer22
NM_001386306.1:c.843_844insATTGGAATTCAGAGCAAAGAGACAGATATTAAGAG	NP_001373235.1:p.Arg282IlefsTer22