Canonical Allele Identifier: CA2632605797

Gene: PRRT2

Linked Data

• gnomAD v4: 16-29814198-ACTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.29814204_29814206del , CM000678.2:g.29814204_29814206del	GRCh38
NC_000016.9:g.29825525_29825527del , CM000678.1:g.29825525_29825527del	GRCh37
NC_000016.8:g.29733026_29733028del	NCBI36
NG_032039.1:g.7117_7119del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358758.12:c.880-129_880-127del MANE Select	ENSP00000351608.7:n.880-129_880-127del
ENST00000567551.2:c.340-129_340-127del	ENSP00000489813.1:n.340-129_340-127del
ENST00000636131.1:c.*56-129_*56-127del	ENSP00000490390.1:n.*56-129_*56-127del
ENST00000636619.1:c.725-129_725-127del	ENSP00000489669.1:n.725-129_725-127del
ENST00000637064.1:c.880-129_880-127del	ENSP00000490826.1:n.880-129_880-127del
ENST00000637290.1:c.*195-129_*195-127del	ENSP00000490278.1:n.*195-129_*195-127del
ENST00000637403.1:c.722-129_722-127del	ENSP00000489782.1:n.722-129_722-127del
ENST00000637565.1:c.340-140_340-138del	ENSP00000490207.1:n.340-140_340-138del
ENST00000647876.1:c.*250_*252del	ENSP00000498021.1:n.*250_*252del
ENST00000300797.7:c.*250_*252del	ENSP00000300797.6:n.*250_*252del
ENST00000358758.11:c.880-129_880-127del	ENSP00000351608.7:n.880-129_880-127del
ENST00000567659.3:c.880-129_880-127del	ENSP00000456226.1:n.880-129_880-127del
ENST00000572820.2:c.880-129_880-127del	ENSP00000458291.2:n.880-129_880-127del
ENST00000609618.2:c.880-140_880-138del	ENSP00000476774.2:n.880-140_880-138del
NM_001256442.1:c.880-129_880-127del	NP_001243371.1:n.880-129_880-127del
NM_001256443.1:c.*250_*252del	NP_001243372.1:n.*250_*252del
NM_145239.2:c.880-129_880-127del	NP_660282.2:n.880-129_880-127del
XM_011545715.1:c.880-129_880-127del	XP_011544017.1:n.880-129_880-127del
XM_011545716.1:c.880-129_880-127del	XP_011544018.1:n.880-129_880-127del
XM_011545717.1:c.880-129_880-127del	XP_011544019.1:n.880-129_880-127del
XM_011545718.1:c.880-129_880-127del	XP_011544020.1:n.880-129_880-127del
XM_011545715.3:c.880-129_880-127del	XP_011544017.1:n.880-129_880-127del
XM_017022887.2:c.880-129_880-127del	XP_016878376.1:n.880-129_880-127del
XM_017022888.2:c.880-129_880-127del	XP_016878377.1:n.880-129_880-127del
XM_017022889.2:c.880-129_880-127del	XP_016878378.1:n.880-129_880-127del
NM_145239.3:c.880-129_880-127del MANE Select	NP_660282.2:n.880-129_880-127del
NM_001256442.2:c.880-129_880-127del	NP_001243371.1:n.880-129_880-127del
NM_001256443.2:c.*250_*252del	NP_001243372.1:n.*250_*252del