Canonical Allele Identifier: CA973611411
Gene: AXIN1 HGNC NCBI

Linked Data

dbSNP Id: rs2053945055
gnomAD v3: 16-342364-AC-A
gnomAD v4: 16-342364-AC-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.342366del , CM000678.2:g.342366del GRCh38
NC_000016.9:g.392366del , CM000678.1:g.392366del GRCh37
NC_000016.8:g.332367del NCBI36
NG_012267.1:g.15100del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262320.8:c.878+3783del MANE Select ENSP00000262320.3:n.878+3783del
ENST00000262320.7:c.878+3783del ENSP00000262320.3:n.878+3783del
ENST00000354866.7:c.878+3783del ENSP00000346935.3:n.878+3783del
ENST00000461023.5:n.175+3783del
ENST00000481769.1:n.305+10004del
NM_003502.3:c.878+3783del NP_003493.1:n.878+3783del
NM_181050.2:c.878+3783del NP_851393.1:n.878+3783del
XM_011522682.1:c.1025+3783del XP_011520984.1:n.1025+3783del
XM_011522683.1:c.1025+3783del XP_011520985.1:n.1025+3783del
XM_011522684.1:c.878+3783del XP_011520986.1:n.878+3783del
XM_011522685.1:c.62+12693del XP_011520987.1:n.62+12693del
XM_011522687.1:c.62+12693del XP_011520989.1:n.62+12693del
XM_011522688.1:c.-1120+3783del XP_011520990.1:n.-1120+3783del
NR_134879.1:n.1267+3783del
XM_011522682.2:c.1025+3783del XP_011520984.1:n.1025+3783del
XM_011522683.2:c.1025+3783del XP_011520985.1:n.1025+3783del
XM_011522684.2:c.878+3783del XP_011520986.1:n.878+3783del
XM_017023743.1:c.1025+3783del XP_016879232.1:n.1025+3783del
XM_017023744.1:c.1025+3783del XP_016879233.1:n.1025+3783del
XM_017023747.1:c.1025+3783del XP_016879236.1:n.1025+3783del
XM_017023748.1:c.1025+3783del XP_016879237.1:n.1025+3783del
XR_001751996.1:n.1280+3783del
NM_003502.4:c.878+3783del MANE Select NP_003493.1:n.878+3783del
NM_181050.3:c.878+3783del NP_851393.1:n.878+3783del
NR_134879.2:n.1314+3783del