Canonical Allele Identifier: CA150670

Gene: SERPINC1

Linked Data

• ClinVar Variation Id: 100924
• ClinVar RCV Id: RCV000087277
• dbSNP Id: rs483352855
• gnomAD v4: 1-173909669-TCTC-T
• MyVariant Identifiers: chr1:g.173878808_173878810del (hg19) ; chr1:g.173909670_173909672del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909674_173909676del , CM000663.2:g.173909674_173909676del	GRCh38
NC_000001.10:g.173878812_173878814del , CM000663.1:g.173878812_173878814del	GRCh37
NC_000001.9:g.172145435_172145437del	NCBI36
NG_012462.1:g.12707_12709del , LRG_577:g.12707_12709del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.1033_1035del MANE Select	ENSP00000356671.3:p.Glu345del
ENST00000367698.3:c.1033_1035del	ENSP00000356671.3:p.Glu345del
ENST00000617423.4:c.560-2179_560-2177del	ENSP00000478688.1:n.560-2179_560-2177del
NM_000488.3:c.1033_1035del , LRG_577t1:c.1033_1035del	NP_000479.1:p.Glu345del
XM_005245198.2:c.889_891del	XP_005245255.1:p.Glu297del
NM_001365052.1:c.889_891del	NP_001351981.1:p.Glu297del
NM_000488.4:c.1033_1035del MANE Select	NP_000479.1:p.Glu345del
NM_001365052.2:c.889_891del	NP_001351981.1:p.Glu297del
NM_001386302.1:c.1156_1158del	NP_001373231.1:p.Glu386del
NM_001386303.1:c.1114_1116del	NP_001373232.1:p.Glu372del
NM_001386304.1:c.1012_1014del	NP_001373233.1:p.Glu338del
NM_001386305.1:c.976_978del	NP_001373234.1:p.Glu326del
NM_001386306.1:c.817_819del	NP_001373235.1:p.Glu273del