Canonical Allele Identifier: CA527601310
Gene: SERPINC1 HGNC NCBI

Linked Data

dbSNP Id: rs1420383950
gnomAD v2: 1-173873065-T-TTAA
gnomAD v4: 1-173903927-T-TTAA
MyVariant Identifiers: chr1:g.173873065_173873066insTAA (hg19) chr1:g.173903927_173903928insTAA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173903927_173903928insTAA , CM000663.2:g.173903927_173903928insTAA GRCh38
NC_000001.10:g.173873065_173873066insTAA , CM000663.1:g.173873065_173873066insTAA GRCh37
NC_000001.9:g.172139688_172139689insTAA NCBI36
NG_012462.1:g.18451_18452insTTA , LRG_577:g.18451_18452insTTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.1356_1357insTTA MANE Select ENSP00000356671.3:p.Ile452_Ile453insLeu
ENST00000367698.3:c.1356_1357insTTA ENSP00000356671.3:p.Ile452_Ile453insLeu
ENST00000617423.4:c.741_742insTTA ENSP00000478688.1:p.Ile247_Ile248insLeu
NM_000488.3:c.1356_1357insTTA , LRG_577t1:c.1356_1357insTTA NP_000479.1:p.Ile452_Ile453insLeu
XM_005245198.2:c.1212_1213insTTA XP_005245255.1:p.Ile404_Ile405insLeu
NM_001365052.1:c.1212_1213insTTA NP_001351981.1:p.Ile404_Ile405insLeu
NM_000488.4:c.1356_1357insTTA MANE Select NP_000479.1:p.Ile452_Ile453insLeu
NM_001365052.2:c.1212_1213insTTA NP_001351981.1:p.Ile404_Ile405insLeu
NM_001386302.1:c.1479_1480insTTA NP_001373231.1:p.Ile493_Ile494insLeu
NM_001386303.1:c.1437_1438insTTA NP_001373232.1:p.Ile479_Ile480insLeu
NM_001386304.1:c.1335_1336insTTA NP_001373233.1:p.Ile445_Ile446insLeu
NM_001386305.1:c.1299_1300insTTA NP_001373234.1:p.Ile433_Ile434insLeu
NM_001386306.1:c.1140_1141insTTA NP_001373235.1:p.Ile380_Ile381insLeu
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