Canonical Allele Identifier: CA2843319988
Gene: SERPINC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173903942dup , CM000663.2:g.173903942dup GRCh38
NC_000001.10:g.173873080dup , CM000663.1:g.173873080dup GRCh37
NC_000001.9:g.172139703dup NCBI36
NG_012462.1:g.18438dup , LRG_577:g.18438dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.1343dup MANE Select ENSP00000356671.3:p.Leu449SerfsTer16
ENST00000367698.3:c.1343dup ENSP00000356671.3:p.Leu449SerfsTer16
ENST00000617423.4:c.728dup ENSP00000478688.1:p.Leu244SerfsTer16
NM_000488.3:c.1343dup , LRG_577t1:c.1343dup NP_000479.1:p.Leu449SerfsTer16
XM_005245198.2:c.1199dup XP_005245255.1:p.Leu401SerfsTer16
NM_001365052.1:c.1199dup NP_001351981.1:p.Leu401SerfsTer16
NM_000488.4:c.1343dup MANE Select NP_000479.1:p.Leu449SerfsTer16
NM_001365052.2:c.1199dup NP_001351981.1:p.Leu401SerfsTer16
NM_001386302.1:c.1466dup NP_001373231.1:p.Leu490SerfsTer16
NM_001386303.1:c.1424dup NP_001373232.1:p.Leu476SerfsTer16
NM_001386304.1:c.1322dup NP_001373233.1:p.Leu442SerfsTer16
NM_001386305.1:c.1286dup NP_001373234.1:p.Leu430SerfsTer16
NM_001386306.1:c.1127dup NP_001373235.1:p.Leu377SerfsTer16