Canonical Allele Identifier: CA2695214172

Gene: SERPING1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57602071_57602080del , CM000673.2:g.57602071_57602080del	GRCh38
NC_000011.9:g.57369544_57369553del , CM000673.1:g.57369544_57369553del	GRCh37
NC_000011.8:g.57126120_57126129del	NCBI36
NG_009625.1:g.9518_9527del , LRG_105:g.9518_9527del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.587_596del MANE Select	ENSP00000278407.4:p.Ile196ThrfsTer12
ENST00000528996.2:c.58+3743_58+3752del	ENSP00000431226.2:n.58+3743_58+3752del
ENST00000531605.2:c.88_97del	ENSP00000503752.1:p.Ser30ProfsTer?
ENST00000619430.2:c.587_596del	ENSP00000478572.2:p.Ile196ThrfsTer12
ENST00000676670.1:c.587_596del	ENSP00000504807.1:p.Ile196ThrfsTer12
ENST00000676741.1:n.1669_1678del
ENST00000677275.1:n.574_583del
ENST00000677624.1:c.587_596del	ENSP00000503979.1:p.Ile196ThrfsTer12
ENST00000677625.1:c.587_596del	ENSP00000502857.1:p.Ile196ThrfsTer12
ENST00000677856.1:n.646_655del
ENST00000677915.1:c.587_596del	ENSP00000503118.1:p.Ile196ThrfsTer12
ENST00000678533.1:c.88_97del	ENSP00000503873.1:p.Ser30ProfsTer?
ENST00000678592.1:c.587_596del	ENSP00000504424.1:p.Ile196ThrfsTer12
ENST00000278407.8:c.587_596del	ENSP00000278407.4:p.Ile196ThrfsTer12
ENST00000340687.10:c.587_596del	ENSP00000341861.6:p.Ile196ThrfsTer12
ENST00000378323.8:c.602_611del	ENSP00000367574.4:p.Ile201ThrfsTer12
ENST00000378324.6:c.431_440del	ENSP00000367575.2:p.Ile144ThrfsTer12
ENST00000403558.1:c.689_698del	ENSP00000384420.1:p.Ile230ThrfsTer12
ENST00000531133.5:c.88_97del	ENSP00000435431.1:p.Ser30ProfsTer?
ENST00000531605.1:n.27_36del
ENST00000531797.5:c.88_97del	ENSP00000432554.1:p.Ser30ProfsTer?
ENST00000619430.1:c.348+1896_348+1905del	ENSP00000478572.1:n.348+1896_348+1905del
NM_000062.2:c.587_596del , LRG_105t1:c.587_596del	NP_000053.2:p.Ile196ThrfsTer12
NM_001032295.1:c.587_596del	NP_001027466.1:p.Ile196ThrfsTer12
NM_000062.3:c.587_596del MANE Select	NP_000053.2:p.Ile196ThrfsTer12
NM_001032295.2:c.587_596del	NP_001027466.1:p.Ile196ThrfsTer12