Canonical Allele Identifier: CA190611725
Community Standard Title: NM_001375567.1(FOCAD):c.3676-144_3676-143dup
Gene: FOCAD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.20948127_20948128dup , CM000671.2:g.20948127_20948128dup GRCh38
NC_000009.11:g.20948126_20948127dup , CM000671.1:g.20948126_20948127dup GRCh37
NC_000009.10:g.20938126_20938127dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001375567.1:c.3676-144_3676-143dup MANE Select NP_001362496.1:n.3676-144_3676-143dup
ENST00000338382.11:c.3676-144_3676-143dup MANE Select ENSP00000344307.6:n.3676-144_3676-143dup
NM_001375568.1:c.3571-144_3571-143dup NP_001362497.1:n.3571-144_3571-143dup
NM_001375570.1:c.3571-144_3571-143dup NP_001362499.1:n.3571-144_3571-143dup
NM_017794.4:c.3676-144_3676-143dup NP_060264.4:n.3676-144_3676-143dup
NM_017794.5:c.3676-144_3676-143dup NP_060264.4:n.3676-144_3676-143dup
ENST00000338382.10:c.3676-144_3676-143dup ENSP00000344307.6:n.3676-144_3676-143dup
ENST00000380249.5:c.3676-144_3676-143dup ENSP00000369599.1:n.3676-144_3676-143dup
ENST00000604254.5:c.418-144_418-143dup ENSP00000474563.1:n.418-144_418-143dup
ENST00000605086.5:c.1984-144_1984-143dup ENSP00000474915.1:n.1984-144_1984-143dup
XM_005251494.3:c.3676-144_3676-143dup XP_005251551.2:n.3676-144_3676-143dup
XM_005251494.4:c.3676-144_3676-143dup XP_005251551.2:n.3676-144_3676-143dup
XM_011517944.1:c.3571-144_3571-143dup XP_011516246.1:n.3571-144_3571-143dup
XM_011517945.1:c.3571-144_3571-143dup XP_011516247.1:n.3571-144_3571-143dup
XM_011517945.2:c.3571-144_3571-143dup XP_011516247.1:n.3571-144_3571-143dup
XM_011517946.1:c.3676-144_3676-143dup XP_011516248.1:n.3676-144_3676-143dup
XM_011517947.1:c.3676-144_3676-143dup XP_011516249.1:n.3676-144_3676-143dup
XM_017014852.1:c.3757-144_3757-143dup XP_016870341.1:n.3757-144_3757-143dup
XM_017014853.1:c.3652-144_3652-143dup XP_016870342.1:n.3652-144_3652-143dup
XM_017014854.1:c.3652-144_3652-143dup XP_016870343.1:n.3652-144_3652-143dup
XM_017014855.1:c.3757-144_3757-143dup XP_016870344.1:n.3757-144_3757-143dup
XM_017014856.1:c.3757-144_3757-143dup XP_016870345.1:n.3757-144_3757-143dup
XM_017014857.2:c.3571-144_3571-143dup XP_016870346.1:n.3571-144_3571-143dup
XM_017014858.2:c.3571-144_3571-143dup XP_016870347.1:n.3571-144_3571-143dup
XM_017014859.1:c.3157-144_3157-143dup XP_016870348.1:n.3157-144_3157-143dup
XM_024447585.1:c.3571-144_3571-143dup XP_024303353.1:n.3571-144_3571-143dup
XM_024447586.1:c.3361-144_3361-143dup XP_024303354.1:n.3361-144_3361-143dup