Canonical Allele Identifier: CA527299895

Gene: SERPINC1

Linked Data

• dbSNP Id: rs1315296013
• gnomAD v2: 1-173880397-T-TGCAGGTTATATGGGGTTG
• gnomAD v3: 1-173911259-T-TGCAGGTTATATGGGGTTG
• gnomAD v4: 1-173911259-T-TGCAGGTTATATGGGGTTG
• MyVariant Identifiers: chr1:g.173880415_173880416insGCAGGTTATATGGGGTTG (hg19) ; chr1:g.173880397_173880398insGCAGGTTATATGGGGTTG (hg19) ; chr1:g.173911277_173911278insGCAGGTTATATGGGGTTG (hg38) ; chr1:g.173911259_173911260insGCAGGTTATATGGGGTTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173911291_173911308dup , CM000663.2:g.173911291_173911308dup	GRCh38
NC_000001.10:g.173880429_173880446dup , CM000663.1:g.173880429_173880446dup	GRCh37
NC_000001.9:g.172147052_172147069dup	NCBI36
NG_012462.1:g.11102_11119dup , LRG_577:g.11102_11119dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.625-386_625-369dup MANE Select	ENSP00000356671.3:n.625-386_625-369dup
ENST00000367698.3:c.625-386_625-369dup	ENSP00000356671.3:n.625-386_625-369dup
ENST00000487183.1:n.330-440_330-423dup
ENST00000617423.4:c.559+587_559+604dup	ENSP00000478688.1:n.559+587_559+604dup
NM_000488.3:c.625-386_625-369dup , LRG_577t1:c.625-386_625-369dup	NP_000479.1:n.625-386_625-369dup
XM_005245198.2:c.481-386_481-369dup	XP_005245255.1:n.481-386_481-369dup
NM_001365052.1:c.481-386_481-369dup	NP_001351981.1:n.481-386_481-369dup
NM_000488.4:c.625-386_625-369dup MANE Select	NP_000479.1:n.625-386_625-369dup
NM_001365052.2:c.481-386_481-369dup	NP_001351981.1:n.481-386_481-369dup
NM_001386302.1:c.625-386_625-369dup	NP_001373231.1:n.625-386_625-369dup
NM_001386303.1:c.706-386_706-369dup	NP_001373232.1:n.706-386_706-369dup
NM_001386304.1:c.625-386_625-369dup	NP_001373233.1:n.625-386_625-369dup
NM_001386305.1:c.625-386_625-369dup	NP_001373234.1:n.625-386_625-369dup
NM_001386306.1:c.409-386_409-369dup	NP_001373235.1:n.409-386_409-369dup