Canonical Allele Identifier: CA163329129

Gene: SERPINE1

Linked Data

• dbSNP Id: rs2227645
• gnomAD v2: 7-100771580-CAAG-C
• gnomAD v3: 7-101128299-CAAG-C
• gnomAD v4: 7-101128299-CAAG-C
• MyVariant Identifiers: chr7:g.100771581_100771583del (hg19) ; chr7:g.101128300_101128302del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.101128304_101128306del , CM000669.2:g.101128304_101128306del	GRCh38
NC_000007.13:g.100771585_100771587del , CM000669.1:g.100771585_100771587del	GRCh37
NC_000007.12:g.100558305_100558307del	NCBI36
NG_013213.1:g.6207_6209del , LRG_597:g.6207_6209del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223095.5:c.-1-89_-1-87del MANE Select	ENSP00000223095.4:n.-1-89_-1-87del
ENST00000223095.4:c.-1-89_-1-87del	ENSP00000223095.4:n.-1-89_-1-87del
NM_000602.4:c.-1-89_-1-87del , LRG_597t1:c.-1-89_-1-87del	NP_000593.1:n.-1-89_-1-87del
NM_000602.5:c.-1-89_-1-87del MANE Select	NP_000593.1:n.-1-89_-1-87del
NM_001386456.1:c.-32-310_-32-308del	NP_001373385.1:n.-32-310_-32-308del
NM_001386457.1:c.-1-89_-1-87del	NP_001373386.1:n.-1-89_-1-87del
NM_001386458.1:c.-1-89_-1-87del	NP_001373387.1:n.-1-89_-1-87del
NM_001386459.1:c.-1-89_-1-87del	NP_001373388.1:n.-1-89_-1-87del
NM_001386460.1:c.-1-89_-1-87del	NP_001373389.1:n.-1-89_-1-87del
NM_001386461.1:c.-1-89_-1-87del	NP_001373390.1:n.-1-89_-1-87del
NM_001386462.1:c.-69-222_-69-220del	NP_001373391.1:n.-69-222_-69-220del
NM_001386463.1:c.1-96_1-94del	NP_001373392.1:n.1-96_1-94del
NM_001386464.1:c.-1-89_-1-87del	NP_001373393.1:n.-1-89_-1-87del
NM_001386465.1:c.-1-89_-1-87del	NP_001373394.1:n.-1-89_-1-87del
NM_001386466.1:c.-1-89_-1-87del	NP_001373395.1:n.-1-89_-1-87del