Canonical Allele Identifier: CA2693629297

Gene: PORCN

Linked Data

• gnomAD v4: X-48511483-ATGGGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48511485_48511489del , CM000685.2:g.48511485_48511489del	GRCh38
NC_000023.10:g.48369873_48369877del , CM000685.1:g.48369873_48369877del	GRCh37
NC_000023.9:g.48254817_48254821del	NCBI36
NG_009278.1:g.7503_7507del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367574.9:c.327_329+2del
ENST00000537758.6:c.327_329+2del
ENST00000682661.1:n.486_488+2del
ENST00000683923.1:c.327_329+2del
ENST00000684722.1:n.509_511+2del
ENST00000326194.11:c.327_329+2del
ENST00000485288.7:c.256_258+2del
ENST00000326194.10:c.327_329+2del
ENST00000355092.4:c.192_194+2del
ENST00000355961.8:c.327_329+2del
ENST00000359882.8:c.327_329+2del
ENST00000361988.7:c.327_329+2del
ENST00000367574.8:c.327_329+2del
ENST00000470275.2:c.256_258+2del
ENST00000472520.5:c.137-407_137-403del	ENSP00000419858.1:n.137-407_137-403del
ENST00000485288.6:c.448_450+2del
ENST00000491243.5:n.366_368+2del
ENST00000528612.5:c.256_258+2del
ENST00000537758.5:c.327_329+2del
NM_001282167.1:c.114_116+2del
NM_022825.3:c.327_329+2del
NM_203473.2:c.327_329+2del
NM_203474.1:c.327_329+2del
NM_203475.2:c.327_329+2del
XM_005272635.1:c.666_668+2del
XM_005272636.1:c.666_668+2del
XM_005272637.1:c.579_581+2del
XM_006724544.2:c.432_434+2del
XM_006724545.2:c.378_380+2del
XM_006724546.2:c.327_329+2del
XM_006724547.1:c.114_116+2del
XM_011543948.1:c.114_116+2del
XM_024452425.1:c.666_668+2del
NM_001282167.2:c.114_116+2del
NM_022825.4:c.327_329+2del
NM_203473.3:c.327_329+2del
NM_203475.3:c.327_329+2del