Canonical Allele Identifier: CA32782142

Gene: SERPINC1

Linked Data

• dbSNP Id: rs929495996
• gnomAD v3: 1-173914453-GTGGCCTGCAGTGT-G
• gnomAD v4: 1-173914453-GTGGCCTGCAGTGT-G
• MyVariant Identifiers: chr1:g.173883592_173883604del (hg19) ; chr1:g.173914454_173914466del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173914457_173914469del , CM000663.2:g.173914457_173914469del	GRCh38
NC_000001.10:g.173883595_173883607del , CM000663.1:g.173883595_173883607del	GRCh37
NC_000001.9:g.172150218_172150230del	NCBI36
NG_012462.1:g.7913_7925del , LRG_577:g.7913_7925del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.408+87_408+99del MANE Select	ENSP00000356671.3:n.408+87_408+99del
ENST00000367698.3:c.408+87_408+99del	ENSP00000356671.3:n.408+87_408+99del
ENST00000487183.1:n.113+87_113+99del
ENST00000494024.1:n.634+87_634+99del
ENST00000617423.4:c.408+87_408+99del	ENSP00000478688.1:n.408+87_408+99del
NM_000488.3:c.408+87_408+99del , LRG_577t1:c.408+87_408+99del	NP_000479.1:n.408+87_408+99del
XM_005245198.2:c.264+87_264+99del	XP_005245255.1:n.264+87_264+99del
NM_001365052.1:c.264+87_264+99del	NP_001351981.1:n.264+87_264+99del
NM_000488.4:c.408+87_408+99del MANE Select	NP_000479.1:n.408+87_408+99del
NM_001365052.2:c.264+87_264+99del	NP_001351981.1:n.264+87_264+99del
NM_001386302.1:c.408+87_408+99del	NP_001373231.1:n.408+87_408+99del
NM_001386303.1:c.489+87_489+99del	NP_001373232.1:n.489+87_489+99del
NM_001386304.1:c.408+87_408+99del	NP_001373233.1:n.408+87_408+99del
NM_001386305.1:c.408+87_408+99del	NP_001373234.1:n.408+87_408+99del
NM_001386306.1:c.408+87_408+99del	NP_001373235.1:n.408+87_408+99del