Canonical Allele Identifier: CA2695214173

Gene: SERPING1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57602077_57602078del , CM000673.2:g.57602077_57602078del	GRCh38
NC_000011.9:g.57369550_57369551del , CM000673.1:g.57369550_57369551del	GRCh37
NC_000011.8:g.57126126_57126127del	NCBI36
NG_009625.1:g.9524_9525del , LRG_105:g.9524_9525del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.593_594del MANE Select	ENSP00000278407.4:p.Ser198LeufsTer?
ENST00000528996.2:c.58+3749_58+3750del	ENSP00000431226.2:n.58+3749_58+3750del
ENST00000531605.2:c.94_95del	ENSP00000503752.1:p.Leu32TyrfsTer?
ENST00000619430.2:c.593_594del	ENSP00000478572.2:p.Ser198LeufsTer?
ENST00000676670.1:c.593_594del	ENSP00000504807.1:p.Ser198LeufsTer?
ENST00000676741.1:n.1675_1676del
ENST00000677275.1:n.580_581del
ENST00000677624.1:c.593_594del	ENSP00000503979.1:p.Ser198LeufsTer?
ENST00000677625.1:c.593_594del	ENSP00000502857.1:p.Ser198LeufsTer?
ENST00000677856.1:n.652_653del
ENST00000677915.1:c.593_594del	ENSP00000503118.1:p.Ser198LeufsTer?
ENST00000678533.1:c.94_95del	ENSP00000503873.1:p.Leu32TyrfsTer?
ENST00000678592.1:c.593_594del	ENSP00000504424.1:p.Ser198LeufsTer?
ENST00000278407.8:c.593_594del	ENSP00000278407.4:p.Ser198LeufsTer?
ENST00000340687.10:c.593_594del	ENSP00000341861.6:p.Ser198LeufsTer?
ENST00000378323.8:c.608_609del	ENSP00000367574.4:p.Ser203LeufsTer?
ENST00000378324.6:c.437_438del	ENSP00000367575.2:p.Ser146LeufsTer?
ENST00000403558.1:c.695_696del	ENSP00000384420.1:p.Ser232LeufsTer?
ENST00000531133.5:c.94_95del	ENSP00000435431.1:p.Leu32TyrfsTer?
ENST00000531605.1:n.33_34del
ENST00000531797.5:c.94_95del	ENSP00000432554.1:p.Leu32TyrfsTer?
ENST00000619430.1:c.348+1902_348+1903del	ENSP00000478572.1:n.348+1902_348+1903del
NM_000062.2:c.593_594del , LRG_105t1:c.593_594del	NP_000053.2:p.Ser198LeufsTer?
NM_001032295.1:c.593_594del	NP_001027466.1:p.Ser198LeufsTer?
NM_000062.3:c.593_594del MANE Select	NP_000053.2:p.Ser198LeufsTer?
NM_001032295.2:c.593_594del	NP_001027466.1:p.Ser198LeufsTer?