Canonical Allele Identifier: CA150699

Gene: SERPINC1

Linked Data

• ClinVar Variation Id: 100938
• ClinVar RCV Id: RCV000087291
• dbSNP Id: rs483352857
• MyVariant Identifiers: chr1:g.173878990_173878994dupACATC (hg19) ; chr1:g.173878989_173878990insACATC (hg19) ; chr1:g.173909852_173909856dupACATC (hg38) ; chr1:g.173909851_173909852insACATC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909853_173909857dup , CM000663.2:g.173909853_173909857dup	GRCh38
NC_000001.10:g.173878991_173878995dup , CM000663.1:g.173878991_173878995dup	GRCh37
NC_000001.9:g.172145614_172145618dup	NCBI36
NG_012462.1:g.12523_12527dup , LRG_577:g.12523_12527dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.849_853dup MANE Select	ENSP00000356671.3:p.Tyr285Ter
ENST00000367698.3:c.849_853dup	ENSP00000356671.3:p.Tyr285Ter
ENST00000487183.1:n.500_504dup
ENST00000617423.4:c.559+2008_559+2012dup	ENSP00000478688.1:n.559+2008_559+2012dup
NM_000488.3:c.849_853dup , LRG_577t1:c.849_853dup	NP_000479.1:p.Tyr285Ter
XM_005245198.2:c.705_709dup	XP_005245255.1:p.Tyr237Ter
NM_001365052.1:c.705_709dup	NP_001351981.1:p.Tyr237Ter
NM_000488.4:c.849_853dup MANE Select	NP_000479.1:p.Tyr285Ter
NM_001365052.2:c.705_709dup	NP_001351981.1:p.Tyr237Ter
NM_001386302.1:c.972_976dup	NP_001373231.1:p.Tyr326Ter
NM_001386303.1:c.930_934dup	NP_001373232.1:p.Tyr312Ter
NM_001386304.1:c.828_832dup	NP_001373233.1:p.Tyr278Ter
NM_001386305.1:c.792_796dup	NP_001373234.1:p.Tyr266Ter
NM_001386306.1:c.633_637dup	NP_001373235.1:p.Tyr213Ter