Canonical Allele Identifier: CA2586964410
Gene: SERPINC1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173909928_173909929insCTT , CM000663.2:g.173909928_173909929insCTT GRCh38
NC_000001.10:g.173879066_173879067insCTT , CM000663.1:g.173879066_173879067insCTT GRCh37
NC_000001.9:g.172145689_172145690insCTT NCBI36
NG_012462.1:g.12452_12453insGAA , LRG_577:g.12452_12453insGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.778_779insGAA MANE Select ENSP00000356671.3:p.Ser259_Lys260insArg
ENST00000367698.3:c.778_779insGAA ENSP00000356671.3:p.Ser259_Lys260insArg
ENST00000487183.1:n.429_430insGAA
ENST00000617423.4:c.559+1937_559+1938insGAA ENSP00000478688.1:n.559+1937_559+1938insGAA
NM_000488.3:c.778_779insGAA , LRG_577t1:c.778_779insGAA NP_000479.1:p.Ser259_Lys260insArg
XM_005245198.2:c.634_635insGAA XP_005245255.1:p.Ser211_Lys212insArg
NM_001365052.1:c.634_635insGAA NP_001351981.1:p.Ser211_Lys212insArg
NM_000488.4:c.778_779insGAA MANE Select NP_000479.1:p.Ser259_Lys260insArg
NM_001365052.2:c.634_635insGAA NP_001351981.1:p.Ser211_Lys212insArg
NM_001386302.1:c.901_902insGAA NP_001373231.1:p.Ser300_Lys301insArg
NM_001386303.1:c.859_860insGAA NP_001373232.1:p.Ser286_Lys287insArg
NM_001386304.1:c.757_758insGAA NP_001373233.1:p.Ser252_Lys253insArg
NM_001386305.1:c.763-42_763-41insGAA NP_001373234.1:n.763-42_763-41insGAA
NM_001386306.1:c.562_563insGAA NP_001373235.1:p.Ser187_Lys188insArg
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