Canonical Allele Identifier: CA3003969

Gene: PKD2

Linked Data

• dbSNP Id: rs772302417
• ExAC: 4:88968043 AAATTT / A
• gnomAD v2: 4-88968043-AAATTT-A
• gnomAD v4: 4-88046891-AAATTT-A
• MyVariant Identifiers: chr4:g.88968044_88968048del (hg19) ; chr4:g.88046892_88046896del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046892_88046896del , CM000666.2:g.88046892_88046896del	GRCh38
NC_000004.11:g.88968044_88968048del , CM000666.1:g.88968044_88968048del	GRCh37
NC_000004.10:g.89187068_89187072del	NCBI36
NG_008604.1:g.44225_44229del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1548+22_1548+26del MANE Select	ENSP00000237596.2:n.1548+22_1548+26del
ENST00000237596.6:c.1548+22_1548+26del	ENSP00000237596.2:n.1548+22_1548+26del
ENST00000508588.5:c.-199+3435_-199+3439del	ENSP00000427131.1:n.-199+3435_-199+3439del
NM_000297.3:c.1548+22_1548+26del	NP_000288.1:n.1548+22_1548+26del
XM_011532028.1:c.1323+22_1323+26del	XP_011530330.1:n.1323+22_1323+26del
XM_011532029.1:c.828+22_828+26del	XP_011530331.1:n.828+22_828+26del
XM_011532030.1:c.708+22_708+26del	XP_011530332.1:n.708+22_708+26del
XR_244632.2:n.1643+22_1643+26del
NR_156488.1:n.1635+22_1635+26del
XM_011532028.2:c.1323+22_1323+26del	XP_011530330.1:n.1323+22_1323+26del
XM_011532030.2:c.708+22_708+26del	XP_011530332.1:n.708+22_708+26del
NM_000297.4:c.1548+22_1548+26del MANE Select	NP_000288.1:n.1548+22_1548+26del
NR_156488.2:n.1647+22_1647+26del