Canonical Allele Identifier: CA2695214174

Gene: SERPING1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57602076_57602103del , CM000673.2:g.57602076_57602103del	GRCh38
NC_000011.9:g.57369549_57369576del , CM000673.1:g.57369549_57369576del	GRCh37
NC_000011.8:g.57126125_57126152del	NCBI36
NG_009625.1:g.9523_9550del , LRG_105:g.9523_9550del

Transcript Alleles

HGVS	Amino-acid Change
NM_000062.3:c.592_619del MANE Select	NP_000053.2:p.Ser198ThrfsTer4
ENST00000278407.9:c.592_619del MANE Select	ENSP00000278407.4:p.Ser198ThrfsTer4
NM_000062.2:c.592_619del , LRG_105t1:c.592_619del	NP_000053.2:p.Ser198ThrfsTer4
NM_001032295.1:c.592_619del	NP_001027466.1:p.Ser198ThrfsTer4
NM_001032295.2:c.592_619del	NP_001027466.1:p.Ser198ThrfsTer4
ENST00000278407.8:c.592_619del	ENSP00000278407.4:p.Ser198ThrfsTer4
ENST00000340687.10:c.592_619del	ENSP00000341861.6:p.Ser198ThrfsTer4
ENST00000378323.8:c.607_634del	ENSP00000367574.4:p.Ser203ThrfsTer4
ENST00000378324.6:c.436_463del	ENSP00000367575.2:p.Ser146ThrfsTer4
ENST00000403558.1:c.694_721del	ENSP00000384420.1:p.Ser232ThrfsTer4
ENST00000528996.2:c.58+3748_58+3775del	ENSP00000431226.2:n.58+3748_58+3775del
ENST00000531133.5:c.93_120del	ENSP00000435431.1:p.Leu32ProfsTer?
ENST00000531605.1:n.32_59del
ENST00000531605.2:c.93_120del	ENSP00000503752.1:p.Leu32ProfsTer?
ENST00000531797.5:c.93_120del	ENSP00000432554.1:p.Leu32ProfsTer?
ENST00000619430.1:c.348+1901_348+1928del	ENSP00000478572.1:n.348+1901_348+1928del
ENST00000619430.2:c.592_619del	ENSP00000478572.2:p.Ser198ThrfsTer4
ENST00000676670.1:c.592_619del	ENSP00000504807.1:p.Ser198ThrfsTer4
ENST00000676741.1:n.1674_1701del
ENST00000677275.1:n.579_606del
ENST00000677624.1:c.592_619del	ENSP00000503979.1:p.Ser198ThrfsTer4
ENST00000677625.1:c.592_619del	ENSP00000502857.1:p.Ser198ThrfsTer4
ENST00000677856.1:n.651_678del
ENST00000677915.1:c.592_619del	ENSP00000503118.1:p.Ser198ThrfsTer4
ENST00000678533.1:c.93_120del	ENSP00000503873.1:p.Leu32ProfsTer?
ENST00000678592.1:c.592_619del	ENSP00000504424.1:p.Ser198ThrfsTer4