Canonical Allele Identifier: CA2695233744

Gene: PORCN

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48511331_48511336delinsACT , CM000685.2:g.48511331_48511336delinsACT	GRCh38
NC_000023.10:g.48369719_48369724delinsACT , CM000685.1:g.48369719_48369724delinsACT	GRCh37
NC_000023.9:g.48254663_48254668delinsACT	NCBI36
NG_009278.1:g.7349_7354delinsACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367574.9:c.173_178delinsACT	ENSP00000356546.6:p.Ala58_Gly60delinsAspTrp
ENST00000537758.6:c.173_178delinsACT	ENSP00000446401.3:p.Ala58_Gly60delinsAspTrp
ENST00000682661.1:n.332_337delinsACT
ENST00000683923.1:c.173_178delinsACT	ENSP00000506737.1:p.Ala58_Gly60delinsAspTrp
ENST00000684722.1:n.355_360delinsACT
ENST00000326194.11:c.173_178delinsACT MANE Select	ENSP00000322304.6:p.Ala58_Gly60delinsAspTrp
ENST00000485288.7:c.137-35_137-30delinsACT	ENSP00000420445.3:n.137-35_137-30delinsACT
ENST00000326194.10:c.173_178delinsACT	ENSP00000322304.6:p.Ala58_Gly60delinsAspTrp
ENST00000355092.4:c.38_43delinsACT	ENSP00000347207.4:p.Ala13_Gly15delinsAspTrp
ENST00000355961.8:c.173_178delinsACT	ENSP00000348233.4:p.Ala58_Gly60delinsAspTrp
ENST00000359882.8:c.173_178delinsACT	ENSP00000352946.4:p.Ala58_Gly60delinsAspTrp
ENST00000361988.7:c.173_178delinsACT	ENSP00000354978.3:p.Ala58_Gly60delinsAspTrp
ENST00000367574.8:c.173_178delinsACT	ENSP00000356546.5:p.Ala58_Gly60delinsAspTrp
ENST00000470275.2:c.137-35_137-30delinsACT	ENSP00000418644.2:n.137-35_137-30delinsACT
ENST00000472520.5:c.137-561_137-556delinsACT	ENSP00000419858.1:n.137-561_137-556delinsACT
ENST00000485288.6:c.329-35_329-30delinsACT	ENSP00000420445.2:n.329-35_329-30delinsACT
ENST00000486272.1:n.523_528delinsACT
ENST00000489940.5:c.173_178delinsACT	ENSP00000419212.1:p.Ala58_Gly60delinsAspTrp
ENST00000491243.5:n.247-35_247-30delinsACT
ENST00000528612.5:c.137-35_137-30delinsACT	ENSP00000431224.1:n.137-35_137-30delinsACT
ENST00000537758.5:c.173_178delinsACT	ENSP00000446401.2:p.Ala58_Gly60delinsAspTrp
NM_001282167.1:c.-6-35_-6-30delinsACT	NP_001269096.1:n.-6-35_-6-30delinsACT
NM_022825.3:c.173_178delinsACT	NP_073736.2:p.Ala58_Gly60delinsAspTrp
NM_203473.2:c.173_178delinsACT	NP_982299.1:p.Ala58_Gly60delinsAspTrp
NM_203474.1:c.173_178delinsACT	NP_982300.1:p.Ala58_Gly60delinsAspTrp
NM_203475.2:c.173_178delinsACT	NP_982301.1:p.Ala58_Gly60delinsAspTrp
XM_005272635.1:c.512_517delinsACT	XP_005272692.1:p.Ala171_Gly173delinsAspTrp
XM_005272636.1:c.512_517delinsACT	XP_005272693.1:p.Ala171_Gly173delinsAspTrp
XM_005272637.1:c.425_430delinsACT	XP_005272694.1:p.Ala142_Gly144delinsAspTrp
XM_006724544.2:c.278_283delinsACT	XP_006724607.1:p.Ala93_Gly95delinsAspTrp
XM_006724545.2:c.259-35_259-30delinsACT	XP_006724608.1:n.259-35_259-30delinsACT
XM_006724546.2:c.173_178delinsACT	XP_006724609.1:p.Ala58_Gly60delinsAspTrp
XM_006724547.1:c.-6-35_-6-30delinsACT	XP_006724610.1:n.-6-35_-6-30delinsACT
XM_011543948.1:c.-6-35_-6-30delinsACT	XP_011542250.1:n.-6-35_-6-30delinsACT
XM_024452425.1:c.512_517delinsACT	XP_024308193.1:p.Ala171_Gly173delinsAspTrp
NM_001282167.2:c.-6-35_-6-30delinsACT	NP_001269096.1:n.-6-35_-6-30delinsACT
NM_022825.4:c.173_178delinsACT	NP_073736.2:p.Ala58_Gly60delinsAspTrp
NM_203473.3:c.173_178delinsACT	NP_982299.1:p.Ala58_Gly60delinsAspTrp
NM_203475.3:c.173_178delinsACT MANE Select	NP_982301.1:p.Ala58_Gly60delinsAspTrp