Canonical Allele Identifier: CA1251269
Gene: SERPINC1 HGNC NCBI

Linked Data

dbSNP Id: rs750144360
ExAC: 1:173878653 CGGGT / C
gnomAD v2: 1-173878653-CGGGT-C
gnomAD v4: 1-173909515-CGGGT-C
MyVariant Identifiers: chr1:g.173878654_173878657del (hg19) chr1:g.173909516_173909519del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.173909518_173909521del , CM000663.2:g.173909518_173909521del GRCh38
NC_000001.10:g.173878656_173878659del , CM000663.1:g.173878656_173878659del GRCh37
NC_000001.9:g.172145279_172145282del NCBI36
NG_012462.1:g.12860_12863del , LRG_577:g.12860_12863del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367698.4:c.1153+33_1153+36del MANE Select ENSP00000356671.3:n.1153+33_1153+36del
ENST00000367698.3:c.1153+33_1153+36del ENSP00000356671.3:n.1153+33_1153+36del
ENST00000617423.4:c.560-2026_560-2023del ENSP00000478688.1:n.560-2026_560-2023del
NM_000488.3:c.1153+33_1153+36del , LRG_577t1:c.1153+33_1153+36del NP_000479.1:n.1153+33_1153+36del
XM_005245198.2:c.1009+33_1009+36del XP_005245255.1:n.1009+33_1009+36del
NM_001365052.1:c.1009+33_1009+36del NP_001351981.1:n.1009+33_1009+36del
NM_000488.4:c.1153+33_1153+36del MANE Select NP_000479.1:n.1153+33_1153+36del
NM_001365052.2:c.1009+33_1009+36del NP_001351981.1:n.1009+33_1009+36del
NM_001386302.1:c.1276+33_1276+36del NP_001373231.1:n.1276+33_1276+36del
NM_001386303.1:c.1234+33_1234+36del NP_001373232.1:n.1234+33_1234+36del
NM_001386304.1:c.1132+33_1132+36del NP_001373233.1:n.1132+33_1132+36del
NM_001386305.1:c.1096+33_1096+36del NP_001373234.1:n.1096+33_1096+36del
NM_001386306.1:c.937+33_937+36del NP_001373235.1:n.937+33_937+36del
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