Canonical Allele Identifier: CA527601332
Gene: SERPINC1 HGNC NCBI

Linked Data

dbSNP Id: rs1193626212
gnomAD v2: 1-173873422-T-TAAG
gnomAD v3: 1-173904284-T-TAAG
gnomAD v4: 1-173904284-T-TAAG
MyVariant Identifiers: chr1:g.173873422_173873423insAAG (hg19) chr1:g.173904284_173904285insAAG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173904285_173904287dup , CM000663.2:g.173904285_173904287dup GRCh38
NC_000001.10:g.173873423_173873425dup , CM000663.1:g.173873423_173873425dup GRCh37
NC_000001.9:g.172140046_172140048dup NCBI36
NG_012462.1:g.18092_18094dup , LRG_577:g.18092_18094dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.1219-222_1219-220dup MANE Select ENSP00000356671.3:n.1219-222_1219-220dup
ENST00000367698.3:c.1219-222_1219-220dup ENSP00000356671.3:n.1219-222_1219-220dup
ENST00000617423.4:c.604-222_604-220dup ENSP00000478688.1:n.604-222_604-220dup
NM_000488.3:c.1219-222_1219-220dup , LRG_577t1:c.1219-222_1219-220dup NP_000479.1:n.1219-222_1219-220dup
XM_005245198.2:c.1075-222_1075-220dup XP_005245255.1:n.1075-222_1075-220dup
NM_001365052.1:c.1075-222_1075-220dup NP_001351981.1:n.1075-222_1075-220dup
NM_000488.4:c.1219-222_1219-220dup MANE Select NP_000479.1:n.1219-222_1219-220dup
NM_001365052.2:c.1075-222_1075-220dup NP_001351981.1:n.1075-222_1075-220dup
NM_001386302.1:c.1342-222_1342-220dup NP_001373231.1:n.1342-222_1342-220dup
NM_001386303.1:c.1300-222_1300-220dup NP_001373232.1:n.1300-222_1300-220dup
NM_001386304.1:c.1198-222_1198-220dup NP_001373233.1:n.1198-222_1198-220dup
NM_001386305.1:c.1162-222_1162-220dup NP_001373234.1:n.1162-222_1162-220dup
NM_001386306.1:c.1003-222_1003-220dup NP_001373235.1:n.1003-222_1003-220dup
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