Canonical Allele Identifier: CA6423533

Gene: C1S

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7065364_7065365insGAAA , CM000674.2:g.7065364_7065365insGAAA	GRCh38
NC_000012.11:g.7172668_7172669insGAAA , CM000674.1:g.7172668_7172669insGAAA	GRCh37
NC_000012.10:g.7042929_7042930insGAAA	NCBI36
NG_011694.1:g.9689_9690insGAAA , LRG_25:g.9689_9690insGAAA

Transcript Alleles

HGVS	Amino-acid Change
NM_001734.5:c.717+65_717+66insGAAA MANE Select	NP_001725.1:n.717+65_717+66insGAAA
ENST00000360817.10:c.717+65_717+66insGAAA MANE Select	ENSP00000354057.5:n.717+65_717+66insGAAA
NM_001346850.1:c.216+65_216+66insGAAA	NP_001333779.1:n.216+65_216+66insGAAA
NM_001346850.2:c.216+65_216+66insGAAA	NP_001333779.1:n.216+65_216+66insGAAA
NM_001734.3:c.717+65_717+66insGAAA , LRG_25t1:c.717+65_717+66insGAAA	NP_001725.1:n.717+65_717+66insGAAA
NM_001734.4:c.717+65_717+66insGAAA	NP_001725.1:n.717+65_717+66insGAAA
NM_201442.2:c.717+65_717+66insGAAA	NP_958850.1:n.717+65_717+66insGAAA
NM_201442.3:c.717+65_717+66insGAAA	NP_958850.1:n.717+65_717+66insGAAA
NM_201442.4:c.717+65_717+66insGAAA	NP_958850.1:n.717+65_717+66insGAAA
ENST00000328916.7:c.717+65_717+66insGAAA	ENSP00000328173.3:n.717+65_717+66insGAAA
ENST00000360817.9:c.717+65_717+66insGAAA	ENSP00000354057.5:n.717+65_717+66insGAAA
ENST00000402681.7:c.216+65_216+66insGAAA	ENSP00000384171.3:n.216+65_216+66insGAAA
ENST00000406697.5:c.717+65_717+66insGAAA	ENSP00000385035.1:n.717+65_717+66insGAAA
ENST00000443875.5:c.791+65_791+66insGAAA
ENST00000463798.1:n.480_481insGAAA
ENST00000473545.1:n.60+65_60+66insGAAA
ENST00000473545.2:n.2501+65_2501+66insGAAA
ENST00000488701.2:n.1234+65_1234+66insGAAA
ENST00000495053.1:n.684+65_684+66insGAAA
ENST00000495053.2:n.2246+65_2246+66insGAAA
ENST00000542978.1:c.216+65_216+66insGAAA	ENSP00000442298.1:n.216+65_216+66insGAAA
ENST00000617865.4:c.610-17_610-16insGAAA	ENSP00000484657.1:n.610-17_610-16insGAAA
ENST00000698563.1:n.3166+65_3166+66insGAAA
ENST00000698564.1:n.1591+65_1591+66insGAAA
ENST00000698565.1:n.2652+65_2652+66insGAAA
XM_005253760.1:c.717+65_717+66insGAAA	XP_005253817.1:n.717+65_717+66insGAAA
XM_005253760.2:c.717+65_717+66insGAAA	XP_005253817.1:n.717+65_717+66insGAAA