Canonical Allele Identifier: CA1251342
Gene: SERPINC1 HGNC NCBI

Linked Data

dbSNP Id: rs758115997
ExAC: 1:173879115 TC / T
gnomAD v2: 1-173879115-TC-T
gnomAD v4: 1-173909977-TC-T
MyVariant Identifiers: chr1:g.173879116del (hg19) chr1:g.173909978del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173909978del , CM000663.2:g.173909978del GRCh38
NC_000001.10:g.173879116del , CM000663.1:g.173879116del GRCh37
NC_000001.9:g.172145739del NCBI36
NG_012462.1:g.12401del , LRG_577:g.12401del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.763-36del MANE Select ENSP00000356671.3:n.763-36del
ENST00000367698.3:c.763-36del ENSP00000356671.3:n.763-36del
ENST00000487183.1:n.414-36del
ENST00000617423.4:c.559+1886del ENSP00000478688.1:n.559+1886del
NM_000488.3:c.763-36del , LRG_577t1:c.763-36del NP_000479.1:n.763-36del
XM_005245198.2:c.619-36del XP_005245255.1:n.619-36del
NM_001365052.1:c.619-36del NP_001351981.1:n.619-36del
NM_000488.4:c.763-36del MANE Select NP_000479.1:n.763-36del
NM_001365052.2:c.619-36del NP_001351981.1:n.619-36del
NM_001386302.1:c.886-36del NP_001373231.1:n.886-36del
NM_001386303.1:c.844-36del NP_001373232.1:n.844-36del
NM_001386304.1:c.742-36del NP_001373233.1:n.742-36del
NM_001386305.1:c.763-93del NP_001373234.1:n.763-93del
NM_001386306.1:c.547-36del NP_001373235.1:n.547-36del
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