Canonical Allele Identifier: CA2428293388
Gene: PORCN HGNC NCBI

Linked Data

dbSNP Id: rs2061676623

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48511653dup , CM000685.2:g.48511653dup GRCh38
NC_000023.10:g.48370041dup , CM000685.1:g.48370041dup GRCh37
NC_000023.9:g.48254985dup NCBI36
NG_009278.1:g.7671dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000367574.9:c.329+166dup ENSP00000356546.6:n.329+166dup
ENST00000537758.6:c.329+166dup ENSP00000446401.3:n.329+166dup
ENST00000682661.1:n.488+166dup
ENST00000683923.1:c.329+166dup ENSP00000506737.1:n.329+166dup
ENST00000684722.1:n.511+166dup
ENST00000326194.11:c.329+166dup MANE Select ENSP00000322304.6:n.329+166dup
ENST00000485288.7:c.258+166dup ENSP00000420445.3:n.258+166dup
ENST00000326194.10:c.329+166dup ENSP00000322304.6:n.329+166dup
ENST00000355092.4:c.194+166dup ENSP00000347207.4:n.194+166dup
ENST00000355961.8:c.329+166dup ENSP00000348233.4:n.329+166dup
ENST00000359882.8:c.329+166dup ENSP00000352946.4:n.329+166dup
ENST00000361988.7:c.329+166dup ENSP00000354978.3:n.329+166dup
ENST00000367574.8:c.329+166dup ENSP00000356546.5:n.329+166dup
ENST00000470275.2:c.258+166dup ENSP00000418644.2:n.258+166dup
ENST00000472520.5:c.137-239dup ENSP00000419858.1:n.137-239dup
ENST00000485288.6:c.450+166dup ENSP00000420445.2:n.450+166dup
ENST00000491243.5:n.368+166dup
ENST00000528612.5:c.258+166dup ENSP00000431224.1:n.258+166dup
ENST00000537758.5:c.329+166dup ENSP00000446401.2:n.329+166dup
NM_001282167.1:c.116+166dup NP_001269096.1:n.116+166dup
NM_022825.3:c.329+166dup NP_073736.2:n.329+166dup
NM_203473.2:c.329+166dup NP_982299.1:n.329+166dup
NM_203474.1:c.329+166dup NP_982300.1:n.329+166dup
NM_203475.2:c.329+166dup NP_982301.1:n.329+166dup
XM_005272635.1:c.668+166dup XP_005272692.1:n.668+166dup
XM_005272636.1:c.668+166dup XP_005272693.1:n.668+166dup
XM_005272637.1:c.581+166dup XP_005272694.1:n.581+166dup
XM_006724544.2:c.434+166dup XP_006724607.1:n.434+166dup
XM_006724545.2:c.380+166dup XP_006724608.1:n.380+166dup
XM_006724546.2:c.329+166dup XP_006724609.1:n.329+166dup
XM_006724547.1:c.116+166dup XP_006724610.1:n.116+166dup
XM_011543948.1:c.116+166dup XP_011542250.1:n.116+166dup
XM_024452425.1:c.668+166dup XP_024308193.1:n.668+166dup
NM_001282167.2:c.116+166dup NP_001269096.1:n.116+166dup
NM_022825.4:c.329+166dup NP_073736.2:n.329+166dup
NM_203473.3:c.329+166dup NP_982299.1:n.329+166dup
NM_203475.3:c.329+166dup MANE Select NP_982301.1:n.329+166dup