Canonical Allele Identifier: CA150674

Gene: SERPINC1

Linked Data

• ClinVar Variation Id: 100926
• ClinVar RCV Id: RCV000087279
• dbSNP Id: rs483352844
• MyVariant Identifiers: chr1:g.173883976_173883983del (hg19) ; chr1:g.173914838_173914845del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173914841_173914848del , CM000663.2:g.173914841_173914848del	GRCh38
NC_000001.10:g.173883979_173883986del , CM000663.1:g.173883979_173883986del	GRCh37
NC_000001.9:g.172150602_172150609del	NCBI36
NG_012462.1:g.7534_7541del , LRG_577:g.7534_7541del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.116_123del MANE Select	ENSP00000356671.3:p.Ile39SerfsTer23
ENST00000367698.3:c.116_123del	ENSP00000356671.3:p.Ile39SerfsTer23
ENST00000494024.1:n.342_349del
ENST00000617423.4:c.116_123del	ENSP00000478688.1:p.Ile39SerfsTer23
NM_000488.3:c.116_123del , LRG_577t1:c.116_123del	NP_000479.1:p.Ile39SerfsTer23
XM_005245198.2:c.-29_-22del	XP_005245255.1:n.-29_-22del
NM_001365052.1:c.-29_-22del	NP_001351981.1:n.-29_-22del
NM_000488.4:c.116_123del MANE Select	NP_000479.1:p.Ile39SerfsTer23
NM_001365052.2:c.-29_-22del	NP_001351981.1:n.-29_-22del
NM_001386302.1:c.116_123del	NP_001373231.1:p.Ile39SerfsTer23
NM_001386303.1:c.197_204del	NP_001373232.1:p.Ile66SerfsTer23
NM_001386304.1:c.116_123del	NP_001373233.1:p.Ile39SerfsTer23
NM_001386305.1:c.116_123del	NP_001373234.1:p.Ile39SerfsTer23
NM_001386306.1:c.116_123del	NP_001373235.1:p.Ile39SerfsTer23