Canonical Allele Identifier: CA2580061378
Gene: SERPINC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2032682
ClinVar RCV Id: RCV002881355

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173911789_173911796del , CM000663.2:g.173911789_173911796del GRCh38
NC_000001.10:g.173880927_173880934del , CM000663.1:g.173880927_173880934del GRCh37
NC_000001.9:g.172147550_172147557del NCBI36
NG_012462.1:g.10585_10592del , LRG_577:g.10585_10592del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.624+5_624+12del MANE Select ENSP00000356671.3:n.624+5_624+12del
ENST00000367698.3:c.624+5_624+12del ENSP00000356671.3:n.624+5_624+12del
ENST00000487183.1:n.329+5_329+12del
ENST00000617423.4:c.559+70_559+77del ENSP00000478688.1:n.559+70_559+77del
NM_000488.3:c.624+5_624+12del , LRG_577t1:c.624+5_624+12del NP_000479.1:n.624+5_624+12del
XM_005245198.2:c.480+5_480+12del XP_005245255.1:n.480+5_480+12del
NM_001365052.1:c.480+5_480+12del NP_001351981.1:n.480+5_480+12del
NM_000488.4:c.624+5_624+12del MANE Select NP_000479.1:n.624+5_624+12del
NM_001365052.2:c.480+5_480+12del NP_001351981.1:n.480+5_480+12del
NM_001386302.1:c.624+5_624+12del NP_001373231.1:n.624+5_624+12del
NM_001386303.1:c.705+5_705+12del NP_001373232.1:n.705+5_705+12del
NM_001386304.1:c.624+5_624+12del NP_001373233.1:n.624+5_624+12del
NM_001386305.1:c.624+5_624+12del NP_001373234.1:n.624+5_624+12del
NM_001386306.1:c.409-903_409-896del NP_001373235.1:n.409-903_409-896del