Canonical Allele Identifier: CA163329133

Gene: SERPINE1

Linked Data

• dbSNP Id: rs930268209
• gnomAD v3: 7-101128299-CAAGAA-C
• gnomAD v4: 7-101128299-CAAGAA-C
• MyVariant Identifiers: chr7:g.100771581_100771585del (hg19) ; chr7:g.101128300_101128304del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.101128300_101128304del , CM000669.2:g.101128300_101128304del	GRCh38
NC_000007.13:g.100771581_100771585del , CM000669.1:g.100771581_100771585del	GRCh37
NC_000007.12:g.100558301_100558305del	NCBI36
NG_013213.1:g.6203_6207del , LRG_597:g.6203_6207del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223095.5:c.-1-93_-1-89del MANE Select	ENSP00000223095.4:n.-1-93_-1-89del
ENST00000223095.4:c.-1-93_-1-89del	ENSP00000223095.4:n.-1-93_-1-89del
NM_000602.4:c.-1-93_-1-89del , LRG_597t1:c.-1-93_-1-89del	NP_000593.1:n.-1-93_-1-89del
NM_000602.5:c.-1-93_-1-89del MANE Select	NP_000593.1:n.-1-93_-1-89del
NM_001386456.1:c.-32-314_-32-310del	NP_001373385.1:n.-32-314_-32-310del
NM_001386457.1:c.-1-93_-1-89del	NP_001373386.1:n.-1-93_-1-89del
NM_001386458.1:c.-1-93_-1-89del	NP_001373387.1:n.-1-93_-1-89del
NM_001386459.1:c.-1-93_-1-89del	NP_001373388.1:n.-1-93_-1-89del
NM_001386460.1:c.-1-93_-1-89del	NP_001373389.1:n.-1-93_-1-89del
NM_001386461.1:c.-1-93_-1-89del	NP_001373390.1:n.-1-93_-1-89del
NM_001386462.1:c.-69-226_-69-222del	NP_001373391.1:n.-69-226_-69-222del
NM_001386463.1:c.1-100_1-96del	NP_001373392.1:n.1-100_1-96del
NM_001386464.1:c.-1-93_-1-89del	NP_001373393.1:n.-1-93_-1-89del
NM_001386465.1:c.-1-93_-1-89del	NP_001373394.1:n.-1-93_-1-89del
NM_001386466.1:c.-1-93_-1-89del	NP_001373395.1:n.-1-93_-1-89del