Canonical Allele Identifier: CA976228786

Gene: PRRT2

Linked Data

• dbSNP Id: rs1900127342
• gnomAD v3: 16-29814149-ACGTGT-A
• gnomAD v4: 16-29814149-ACGTGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.29814151_29814155del , CM000678.2:g.29814151_29814155del	GRCh38
NC_000016.9:g.29825472_29825476del , CM000678.1:g.29825472_29825476del	GRCh37
NC_000016.8:g.29732973_29732977del	NCBI36
NG_032039.1:g.7064_7068del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358758.12:c.880-182_880-178del MANE Select	ENSP00000351608.7:n.880-182_880-178del
ENST00000567551.2:c.340-182_340-178del	ENSP00000489813.1:n.340-182_340-178del
ENST00000636131.1:c.*55+142_*55+146del	ENSP00000490390.1:n.*55+142_*55+146del
ENST00000636619.1:c.725-182_725-178del	ENSP00000489669.1:n.725-182_725-178del
ENST00000637064.1:c.880-182_880-178del	ENSP00000490826.1:n.880-182_880-178del
ENST00000637290.1:c.*195-182_*195-178del	ENSP00000490278.1:n.*195-182_*195-178del
ENST00000637403.1:c.722-182_722-178del	ENSP00000489782.1:n.722-182_722-178del
ENST00000637565.1:c.340-193_340-189del	ENSP00000490207.1:n.340-193_340-189del
ENST00000647876.1:c.*197_*201del	ENSP00000498021.1:n.*197_*201del
ENST00000300797.7:c.*197_*201del	ENSP00000300797.6:n.*197_*201del
ENST00000358758.11:c.880-182_880-178del	ENSP00000351608.7:n.880-182_880-178del
ENST00000567659.3:c.880-182_880-178del	ENSP00000456226.1:n.880-182_880-178del
ENST00000572820.2:c.880-182_880-178del	ENSP00000458291.2:n.880-182_880-178del
ENST00000609618.2:c.880-193_880-189del	ENSP00000476774.2:n.880-193_880-189del
NM_001256442.1:c.880-182_880-178del	NP_001243371.1:n.880-182_880-178del
NM_001256443.1:c.*197_*201del	NP_001243372.1:n.*197_*201del
NM_145239.2:c.880-182_880-178del	NP_660282.2:n.880-182_880-178del
XM_011545715.1:c.880-182_880-178del	XP_011544017.1:n.880-182_880-178del
XM_011545716.1:c.880-182_880-178del	XP_011544018.1:n.880-182_880-178del
XM_011545717.1:c.880-182_880-178del	XP_011544019.1:n.880-182_880-178del
XM_011545718.1:c.880-182_880-178del	XP_011544020.1:n.880-182_880-178del
XM_011545715.3:c.880-182_880-178del	XP_011544017.1:n.880-182_880-178del
XM_017022887.2:c.880-182_880-178del	XP_016878376.1:n.880-182_880-178del
XM_017022888.2:c.880-182_880-178del	XP_016878377.1:n.880-182_880-178del
XM_017022889.2:c.880-182_880-178del	XP_016878378.1:n.880-182_880-178del
NM_145239.3:c.880-182_880-178del MANE Select	NP_660282.2:n.880-182_880-178del
NM_001256442.2:c.880-182_880-178del	NP_001243371.1:n.880-182_880-178del
NM_001256443.2:c.*197_*201del	NP_001243372.1:n.*197_*201del