Canonical Allele Identifier: CA1139658561

Gene: PKD2

Linked Data

• ClinVar Variation Id: 972885
• ClinVar RCV Id: RCV001249172

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88063771_88068801del , CM000666.2:g.88063771_88068801del	GRCh38
NC_000004.11:g.88984923_88989953del , CM000666.1:g.88984923_88989953del	GRCh37
NC_000004.10:g.89203947_89208977del	NCBI36
NG_008604.1:g.61104_66134del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.2119-1603_2522+740del
ENST00000237596.6:c.2119-1603_2522+740del
ENST00000502363.1:c.373-1603_776+740del
ENST00000508588.5:c.373-1603_776+740del
ENST00000511337.5:n.371-1603_774+740del
ENST00000512858.1:n.331-1603_1000+740del
NM_000297.3:c.2119-1603_2522+740del
XM_011532028.1:c.1894-1603_2297+740del
XM_011532029.1:c.1399-1603_1802+740del
XM_011532030.1:c.1279-1603_1682+740del
NR_156488.1:n.2085-1603_2488+740del
XM_011532028.2:c.1894-1603_2297+740del
XM_011532030.2:c.1279-1603_1682+740del
NM_000297.4:c.2119-1603_2522+740del
NR_156488.2:n.2097-1603_2500+740del