Canonical Allele Identifier: CA2499221233
Community Standard Title: NM_145200.5(CABP4):c.541+7_541+8del
Gene: CABP4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67456449_67456450del , CM000673.2:g.67456449_67456450del GRCh38
NC_000011.9:g.67223920_67223921del , CM000673.1:g.67223920_67223921del GRCh37
NC_000011.8:g.66980496_66980497del NCBI36
NG_021211.1:g.6103_6104del

Transcript Alleles

HGVS Amino-acid Change
NM_145200.5:c.541+7_541+8del MANE Select NP_660201.1:n.541+7_541+8del
ENST00000325656.7:c.541+7_541+8del MANE Select ENSP00000324960.5:n.541+7_541+8del
NM_001300895.1:c.226+7_226+8del NP_001287824.1:n.226+7_226+8del
NM_001300895.2:c.226+7_226+8del NP_001287824.1:n.226+7_226+8del
NM_001300895.3:c.226+7_226+8del NP_001287824.1:n.226+7_226+8del
NM_001300896.1:c.226+7_226+8del NP_001287825.1:n.226+7_226+8del
NM_001300896.2:c.226+7_226+8del NP_001287825.1:n.226+7_226+8del
NM_001300896.3:c.226+7_226+8del NP_001287825.1:n.226+7_226+8del
NM_001379183.1:c.226+7_226+8del NP_001366112.1:n.226+7_226+8del
NM_145200.3:c.541+7_541+8del NP_660201.1:n.541+7_541+8del
NM_145200.4:c.541+7_541+8del NP_660201.1:n.541+7_541+8del
NR_166529.1:n.436+660_436+661del
ENST00000325656.6:c.541+7_541+8del ENSP00000324960.5:n.541+7_541+8del
ENST00000438189.6:c.226+7_226+8del ENSP00000401555.2:n.226+7_226+8del
ENST00000545777.1:c.*197+32_*197+33del ENSP00000439145.1:n.*197+32_*197+33del
XM_005274114.2:c.576+32_576+33del XP_005274171.2:n.576+32_576+33del
XM_005274114.3:c.576+32_576+33del XP_005274171.2:n.576+32_576+33del
XM_011545181.1:c.601+7_601+8del XP_011543483.1:n.601+7_601+8del
XM_011545181.2:c.601+7_601+8del XP_011543483.1:n.601+7_601+8del
XM_011545182.1:c.457+231_457+232del XP_011543484.1:n.457+231_457+232del
XM_011545182.2:c.457+231_457+232del XP_011543484.1:n.457+231_457+232del
XM_011545183.1:c.226+7_226+8del XP_011543485.1:n.226+7_226+8del
XM_011545183.2:c.226+7_226+8del XP_011543485.1:n.226+7_226+8del
XM_011545184.1:c.226+7_226+8del XP_011543486.1:n.226+7_226+8del
XM_017018025.1:c.226+7_226+8del XP_016873514.1:n.226+7_226+8del
XM_024448615.1:c.541+7_541+8del XP_024304383.1:n.541+7_541+8del
XM_024448616.1:c.226+7_226+8del XP_024304384.1:n.226+7_226+8del