Canonical Allele Identifier: CA1931710333

Gene: PKD2L1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100315722G= , CM000672.2:g.100315722G=	GRCh38
NC_000010.10:g.102075479G= , CM000672.1:g.102075479G=	GRCh37
NC_000010.9:g.102065469G=	NCBI36
NG_047099.1:g.35803C=

Transcript Alleles

HGVS	Amino-acid Change
NM_016112.3:c.349+13489C= MANE Select	NP_057196.2:n.349+13489C=
ENST00000318222.4:c.349+13489C= MANE Select	ENSP00000325296.3:n.349+13489C=
NM_001253837.1:c.208+13489C=	NP_001240766.1:n.208+13489C=
NM_001253837.2:c.208+13489C=	NP_001240766.1:n.208+13489C=
NM_016112.2:c.349+13489C=	NP_057196.2:n.349+13489C=
ENST00000318222.3:c.349+13489C=	ENSP00000325296.3:n.349+13489C=
ENST00000465680.2:c.104+14147C=
ENST00000528248.1:c.208+13489C=
ENST00000532547.1:c.*93+13489C=	ENSP00000434224.1:n.*93+13489C=
XM_011540321.1:c.349+13489C=	XP_011538623.1:n.349+13489C=
XM_011540322.1:c.349+13489C=	XP_011538624.1:n.349+13489C=
XM_011540323.1:c.59-16004C=	XP_011538625.1:n.59-16004C=
XM_011540323.3:c.59-16004C=	XP_011538625.1:n.59-16004C=
XM_011540324.1:c.59-16004C=	XP_011538626.1:n.59-16004C=
XM_011540325.1:c.-11-16004C=	XP_011538627.1:n.-11-16004C=
XM_011540325.3:c.-11-16004C=	XP_011538627.1:n.-11-16004C=
XM_017016875.2:c.59-16004C=	XP_016872364.1:n.59-16004C=
XM_017016876.1:c.101-16004C=	XP_016872365.1:n.101-16004C=
XR_945861.1:n.622+13489C=