Canonical Allele Identifier: CA2975130781
Community Standard Title: NM_000062.3(SERPING1):c.1455_1457del (p.Gln485del)
Gene: SERPING1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.57614533_57614535del , CM000673.2:g.57614533_57614535del GRCh38
NC_000011.9:g.57382006_57382008del , CM000673.1:g.57382006_57382008del GRCh37
NC_000011.8:g.57138582_57138584del NCBI36
NG_009625.1:g.21980_21982del , LRG_105:g.21980_21982del

Transcript Alleles

HGVS Amino-acid Change
NM_000062.3:c.1455_1457del MANE Select NP_000053.2:p.Gln485del
ENST00000278407.9:c.1455_1457del MANE Select ENSP00000278407.4:p.Gln485del
NM_000062.2:c.1455_1457del , LRG_105t1:c.1455_1457del NP_000053.2:p.Gln485del
NM_001032295.1:c.1455_1457del NP_001027466.1:p.Gln485del
NM_001032295.2:c.1455_1457del NP_001027466.1:p.Gln485del
ENST00000278407.8:c.1455_1457del ENSP00000278407.4:p.Gln485del
ENST00000340687.10:c.1344_1346del ENSP00000341861.6:p.Gln448del
ENST00000378323.8:c.1470_1472del ENSP00000367574.4:p.Gln490del
ENST00000378324.6:c.1299_1301del ENSP00000367575.2:p.Gln433del
ENST00000403558.1:c.1584_1586del ENSP00000384420.1:p.Gln528del
ENST00000528996.1:c.656_658del ENSP00000431226.1:n.656_658del
ENST00000528996.2:c.*352_*354del ENSP00000431226.2:n.*352_*354del
ENST00000531133.5:c.956_958del ENSP00000435431.1:n.956_958del
ENST00000531605.2:c.*1231_*1233del ENSP00000503752.1:n.*1231_*1233del
ENST00000531797.5:c.*480_*482del ENSP00000432554.1:n.*480_*482del
ENST00000619430.1:c.586_588del ENSP00000478572.1:n.586_588del
ENST00000619430.2:c.1251_1253del ENSP00000478572.2:p.Gln417del
ENST00000676670.1:c.1455_1457del ENSP00000504807.1:p.Gln485del
ENST00000676741.1:n.2537_2539del
ENST00000677624.1:c.*875_*877del ENSP00000503979.1:n.*875_*877del
ENST00000677625.1:c.1401_1403del ENSP00000502857.1:p.Gln467del
ENST00000677856.1:n.1708_1710del
ENST00000677915.1:c.*352_*354del ENSP00000503118.1:n.*352_*354del
ENST00000678533.1:c.*1009_*1011del ENSP00000503873.1:n.*1009_*1011del
ENST00000678592.1:c.*395_*397del ENSP00000504424.1:n.*395_*397del