Canonical Allele Identifier: CA1139661050

Linked Data

ClinVar Variation Id: 929819
ClinVar RCV Id: RCV001195060
dbSNP Id: rs2071086256

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95101786_95101787insTC , CM000671.2:g.95101786_95101787insTC GRCh38
NC_000009.11:g.97864068_97864069insTC , CM000671.1:g.97864068_97864069insTC GRCh37
NC_000009.10:g.96903889_96903890insTC NCBI36
NG_011707.1:g.220924_220925insAG , LRG_497:g.220924_220925insAG

Transcript Alleles

HGVS Amino-acid change
ENST00000710812.1:n.410+21006_410+21007insTC (AOPEP)
ENST00000696260.1:n.2413_2414insAG (FANCC)
ENST00000289081.8:c.1598_1599insAG (FANCC) MANE Select ENSP00000289081.3:p.Trp533Ter
ENST00000375305.6:c.1598_1599insAG (FANCC) ENSP00000364454.1:p.Trp533Ter
ENST00000649334.1:c.1743_1744insAG (FANCC) ENSP00000497735.1:n.1743_1744insAG
ENST00000289081.7:c.1598_1599insAG (FANCC) ENSP00000289081.3:p.Trp533Ter
ENST00000375305.5:c.1598_1599insAG (FANCC) ENSP00000364454.1:p.Trp533Ter
NM_000136.2:c.1598_1599insAG , LRG_497t1:c.1598_1599insAG (FANCC) NP_000127.2:p.Trp533Ter
NM_001243743.1:c.1598_1599insAG (FANCC) NP_001230672.1:p.Trp533Ter
XM_005251802.2:c.917_918insAG (FANCC) XP_005251859.1:p.Trp306Ter
XM_006717001.1:c.1433_1434insAG (FANCC) XP_006717064.1:p.Trp478Ter
XM_011518365.1:c.1598_1599insAG (FANCC) XP_011516667.1:p.Trp533Ter
XM_011518367.1:c.1142_1143insAG (FANCC) XP_011516669.1:p.Trp381Ter
XM_011519121.1:c.2319+21006_2319+21007insTC (AOPEP) XP_011517423.1:n.2319+21006_2319+21007ins...
XM_005251802.3:c.917_918insAG (FANCC) XP_005251859.1:p.Trp306Ter
XM_006717001.3:c.1433_1434insAG (FANCC) XP_006717064.1:p.Trp478Ter
XM_011518365.3:c.1598_1599insAG (FANCC) XP_011516667.1:p.Trp533Ter
XM_011518367.2:c.1142_1143insAG (FANCC) XP_011516669.1:p.Trp381Ter
XM_011519121.3:c.2319+21006_2319+21007insTC (AOPEP) XP_011517423.1:n.2319+21006_2319+21007ins...
XM_017014452.2:c.1142_1143insAG (FANCC) XP_016869941.1:p.Trp381Ter
XM_017014453.1:c.1142_1143insAG (FANCC) XP_016869942.1:p.Trp381Ter
XM_017014454.1:c.977_978insAG (FANCC) XP_016869943.1:p.Trp326Ter
XM_024447451.1:c.1598_1599insAG (FANCC) XP_024303219.1:p.Trp533Ter
NM_000136.3:c.1598_1599insAG (FANCC) MANE Select NP_000127.2:p.Trp533Ter
NM_001243743.2:c.1598_1599insAG (FANCC) NP_001230672.1:p.Trp533Ter