Canonical Allele Identifier: CA2573051417
Gene: SERPINC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1321903
ClinVar RCV Id: RCV001779987

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173907041_173908413del , CM000663.2:g.173907041_173908413del GRCh38
NC_000001.10:g.173876179_173877551del , CM000663.1:g.173876179_173877551del GRCh37
NC_000001.9:g.172142802_172144174del NCBI36
NG_012462.1:g.13967_15339del , LRG_577:g.13967_15339del

Transcript Alleles

HGVS Amino-acid change
ENST00000367698.4:c.1154-898_1218+410del
ENST00000367698.3:c.1154-898_1218+410del
ENST00000617423.4:c.560-919_603+410del
NM_000488.3:c.1154-898_1218+410del , LRG_577t1:c.1154-898_1218+410del
XM_005245198.2:c.1010-898_1074+410del
NM_001365052.1:c.1010-898_1074+410del
NM_000488.4:c.1154-898_1218+410del
NM_001365052.2:c.1010-898_1074+410del
NM_001386302.1:c.1277-898_1341+410del
NM_001386303.1:c.1235-898_1299+410del
NM_001386304.1:c.1133-898_1197+410del
NM_001386305.1:c.1097-898_1161+410del
NM_001386306.1:c.938-898_1002+410del