Canonical Allele Identifier: CA527298251

Gene: SERPINC1

Linked Data

• dbSNP Id: rs1338428623
• gnomAD v2: 1-173872978-TTC-T
• gnomAD v4: 1-173903840-TTC-T
• MyVariant Identifiers: chr1:g.173872979_173872980del (hg19) ; chr1:g.173903841_173903842del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173903842_173903843del , CM000663.2:g.173903842_173903843del	GRCh38
NC_000001.10:g.173872980_173872981del , CM000663.1:g.173872980_173872981del	GRCh37
NC_000001.9:g.172139603_172139604del	NCBI36
NG_012462.1:g.18537_18538del , LRG_577:g.18537_18538del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367698.4:c.*47_*48del MANE Select	ENSP00000356671.3:n.*47_*48del
ENST00000367698.3:c.*47_*48del	ENSP00000356671.3:n.*47_*48del
ENST00000617423.4:c.*47_*48del	ENSP00000478688.1:n.*47_*48del
NM_000488.3:c.*47_*48del , LRG_577t1:c.*47_*48del	NP_000479.1:n.*47_*48del
XM_005245198.2:c.*47_*48del	XP_005245255.1:n.*47_*48del
NM_001365052.1:c.*47_*48del	NP_001351981.1:n.*47_*48del
NM_000488.4:c.*47_*48del MANE Select	NP_000479.1:n.*47_*48del
NM_001365052.2:c.*47_*48del	NP_001351981.1:n.*47_*48del
NM_001386302.1:c.*47_*48del	NP_001373231.1:n.*47_*48del
NM_001386303.1:c.*47_*48del	NP_001373232.1:n.*47_*48del
NM_001386304.1:c.*47_*48del	NP_001373233.1:n.*47_*48del
NM_001386305.1:c.*47_*48del	NP_001373234.1:n.*47_*48del
NM_001386306.1:c.*47_*48del	NP_001373235.1:n.*47_*48del