Canonical Allele Identifier: CA891313737

Gene: SERPINC1

Linked Data

• dbSNP Id: rs1325731399
• gnomAD v3: 1-173910173-TAGAC-T
• gnomAD v4: 1-173910173-TAGAC-T
• MyVariant Identifiers: chr1:g.173879312_173879315del (hg19) ; chr1:g.173910174_173910177del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173910178_173910181del , CM000663.2:g.173910178_173910181del	GRCh38
NC_000001.10:g.173879316_173879319del , CM000663.1:g.173879316_173879319del	GRCh37
NC_000001.9:g.172145939_172145942del	NCBI36
NG_012462.1:g.12202_12205del , LRG_577:g.12202_12205del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.763-235_763-232del MANE Select	ENSP00000356671.3:n.763-235_763-232del
ENST00000367698.3:c.763-235_763-232del	ENSP00000356671.3:n.763-235_763-232del
ENST00000487183.1:n.414-235_414-232del
ENST00000617423.4:c.559+1687_559+1690del	ENSP00000478688.1:n.559+1687_559+1690del
NM_000488.3:c.763-235_763-232del , LRG_577t1:c.763-235_763-232del	NP_000479.1:n.763-235_763-232del
XM_005245198.2:c.619-235_619-232del	XP_005245255.1:n.619-235_619-232del
NM_001365052.1:c.619-235_619-232del	NP_001351981.1:n.619-235_619-232del
NM_000488.4:c.763-235_763-232del MANE Select	NP_000479.1:n.763-235_763-232del
NM_001365052.2:c.619-235_619-232del	NP_001351981.1:n.619-235_619-232del
NM_001386302.1:c.886-235_886-232del	NP_001373231.1:n.886-235_886-232del
NM_001386303.1:c.844-235_844-232del	NP_001373232.1:n.844-235_844-232del
NM_001386304.1:c.742-235_742-232del	NP_001373233.1:n.742-235_742-232del
NM_001386305.1:c.763-292_763-289del	NP_001373234.1:n.763-292_763-289del
NM_001386306.1:c.547-235_547-232del	NP_001373235.1:n.547-235_547-232del