Canonical Allele Identifier: CA2693629124

Gene: PORCN

Linked Data

• gnomAD v4: X-48511197-CCTCTCTCTCTCCCTCCCTCCCTCCCTTCCTCCCACTCCCTCTCTTTCTCTCTCTTTCTCGTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48511207_48511268del , CM000685.2:g.48511207_48511268del	GRCh38
NC_000023.10:g.48369595_48369656del , CM000685.1:g.48369595_48369656del	GRCh37
NC_000023.9:g.48254539_48254600del	NCBI36
NG_009278.1:g.7225_7286del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367574.9:c.137-88_137-27del	ENSP00000356546.6:n.137-88_137-27del
ENST00000537758.6:c.137-88_137-27del	ENSP00000446401.3:n.137-88_137-27del
ENST00000682661.1:n.296-88_296-27del
ENST00000683923.1:c.137-88_137-27del	ENSP00000506737.1:n.137-88_137-27del
ENST00000684722.1:n.319-88_319-27del
ENST00000326194.11:c.137-88_137-27del MANE Select	ENSP00000322304.6:n.137-88_137-27del
ENST00000485288.7:c.137-159_137-98del	ENSP00000420445.3:n.137-159_137-98del
ENST00000326194.10:c.137-88_137-27del	ENSP00000322304.6:n.137-88_137-27del
ENST00000355961.8:c.137-88_137-27del	ENSP00000348233.4:n.137-88_137-27del
ENST00000359882.8:c.137-88_137-27del	ENSP00000352946.4:n.137-88_137-27del
ENST00000361988.7:c.137-88_137-27del	ENSP00000354978.3:n.137-88_137-27del
ENST00000367574.8:c.137-88_137-27del	ENSP00000356546.5:n.137-88_137-27del
ENST00000470275.2:c.137-159_137-98del	ENSP00000418644.2:n.137-159_137-98del
ENST00000472520.5:c.137-685_137-624del	ENSP00000419858.1:n.137-685_137-624del
ENST00000485288.6:c.329-159_329-98del	ENSP00000420445.2:n.329-159_329-98del
ENST00000486272.1:n.487-88_487-27del
ENST00000489940.5:c.137-88_137-27del	ENSP00000419212.1:n.137-88_137-27del
ENST00000491243.5:n.247-159_247-98del
ENST00000528612.5:c.137-159_137-98del	ENSP00000431224.1:n.137-159_137-98del
ENST00000537758.5:c.137-88_137-27del	ENSP00000446401.2:n.137-88_137-27del
NM_001282167.1:c.-6-159_-6-98del	NP_001269096.1:n.-6-159_-6-98del
NM_022825.3:c.137-88_137-27del	NP_073736.2:n.137-88_137-27del
NM_203473.2:c.137-88_137-27del	NP_982299.1:n.137-88_137-27del
NM_203474.1:c.137-88_137-27del	NP_982300.1:n.137-88_137-27del
NM_203475.2:c.137-88_137-27del	NP_982301.1:n.137-88_137-27del
XM_005272635.1:c.476-88_476-27del	XP_005272692.1:n.476-88_476-27del
XM_005272636.1:c.476-88_476-27del	XP_005272693.1:n.476-88_476-27del
XM_005272637.1:c.389-88_389-27del	XP_005272694.1:n.389-88_389-27del
XM_006724544.2:c.242-88_242-27del	XP_006724607.1:n.242-88_242-27del
XM_006724545.2:c.259-159_259-98del	XP_006724608.1:n.259-159_259-98del
XM_006724546.2:c.137-88_137-27del	XP_006724609.1:n.137-88_137-27del
XM_006724547.1:c.-6-159_-6-98del	XP_006724610.1:n.-6-159_-6-98del
XM_011543948.1:c.-6-159_-6-98del	XP_011542250.1:n.-6-159_-6-98del
XM_024452425.1:c.476-88_476-27del	XP_024308193.1:n.476-88_476-27del
NM_001282167.2:c.-6-159_-6-98del	NP_001269096.1:n.-6-159_-6-98del
NM_022825.4:c.137-88_137-27del	NP_073736.2:n.137-88_137-27del
NM_203473.3:c.137-88_137-27del	NP_982299.1:n.137-88_137-27del
NM_203475.3:c.137-88_137-27del MANE Select	NP_982301.1:n.137-88_137-27del