Canonical Allele Identifier: CA1865462175

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95107196_95107207delinsTGCAGGTCCTGG , CM000671.2:g.95107196_95107207delinsTGCAGGTCCTGG GRCh38
NC_000009.11:g.97869478_97869489delinsTGCAGGTCCTGG , CM000671.1:g.97869478_97869489delinsTGCAGGTCCTGG GRCh37
NC_000009.10:g.96909299_96909310delinsTGCAGGTCCTGG NCBI36
NG_011707.1:g.215503_215514delinsCCAGGACCTGCA , LRG_497:g.215503_215514delinsCCAGGACCTGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000710812.1:n.410+26416_410+26427delinsTGCAGGTCCTGG (AOPEP)
ENST00000696260.1:n.2207_2218delinsCCAGGACCTGCA (FANCC)
ENST00000289081.8:c.1392_1403delinsCCAGGACCTGCA (FANCC) MANE Select ENSP00000289081.3:p.Ala464=
ENST00000375305.6:c.1392_1403delinsCCAGGACCTGCA (FANCC) ENSP00000364454.1:p.Ala464=
ENST00000649334.1:c.1537_1548delinsCCAGGACCTGCA (FANCC) ENSP00000497735.1:n.1537_1548delinsCCAGGACCTGCA
ENST00000289081.7:c.1392_1403delinsCCAGGACCTGCA (FANCC) ENSP00000289081.3:p.Ala464=
ENST00000375305.5:c.1392_1403delinsCCAGGACCTGCA (FANCC) ENSP00000364454.1:p.Ala464=
ENST00000464627.5:n.719_730delinsCCAGGACCTGCA (FANCC)
NM_000136.2:c.1392_1403delinsCCAGGACCTGCA , LRG_497t1:c.1392_1403delinsCCAGGACCTGCA (FANCC) NP_000127.2:p.Ala464=
NM_001243743.1:c.1392_1403delinsCCAGGACCTGCA (FANCC) NP_001230672.1:p.Ala464=
XM_005251802.2:c.711_722delinsCCAGGACCTGCA (FANCC) XP_005251859.1:p.Ala237=
XM_006717001.1:c.1227_1238delinsCCAGGACCTGCA (FANCC) XP_006717064.1:p.Ala409=
XM_011518365.1:c.1392_1403delinsCCAGGACCTGCA (FANCC) XP_011516667.1:p.Ala464=
XM_011518367.1:c.936_947delinsCCAGGACCTGCA (FANCC) XP_011516669.1:p.Ala312=
XM_011519121.1:c.2319+26416_2319+26427delinsTGCAGGTCCTGG (AOPEP) XP_011517423.1:n.2319+26416_2319+26427delinsTGCAGGTCCTGG
XM_005251802.3:c.711_722delinsCCAGGACCTGCA (FANCC) XP_005251859.1:p.Ala237=
XM_006717001.3:c.1227_1238delinsCCAGGACCTGCA (FANCC) XP_006717064.1:p.Ala409=
XM_011518365.3:c.1392_1403delinsCCAGGACCTGCA (FANCC) XP_011516667.1:p.Ala464=
XM_011518367.2:c.936_947delinsCCAGGACCTGCA (FANCC) XP_011516669.1:p.Ala312=
XM_011519121.3:c.2319+26416_2319+26427delinsTGCAGGTCCTGG (AOPEP) XP_011517423.1:n.2319+26416_2319+26427delinsTGCAGGTCCTGG
XM_017014452.2:c.936_947delinsCCAGGACCTGCA (FANCC) XP_016869941.1:p.Ala312=
XM_017014453.1:c.936_947delinsCCAGGACCTGCA (FANCC) XP_016869942.1:p.Ala312=
XM_017014454.1:c.771_782delinsCCAGGACCTGCA (FANCC) XP_016869943.1:p.Ala257=
XM_024447451.1:c.1392_1403delinsCCAGGACCTGCA (FANCC) XP_024303219.1:p.Ala464=
XR_001746847.1:n.614_625delinsTGCAGGTCCTGG
NM_000136.3:c.1392_1403delinsCCAGGACCTGCA (FANCC) MANE Select NP_000127.2:p.Ala464=
NM_001243743.2:c.1392_1403delinsCCAGGACCTGCA (FANCC) NP_001230672.1:p.Ala464=