Canonical Allele Identifier: CA658863331

Gene: PKD2L1

Linked Data

• dbSNP Id: rs1489026362
• gnomAD v3: 10-100315723-CCT-C
• gnomAD v4: 10-100315723-CCT-C
• MyVariant Identifiers: chr10:g.102075481_102075482del (hg19) ; chr10:g.100315724_100315725del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100315724_100315725del , CM000672.2:g.100315724_100315725del	GRCh38
NC_000010.10:g.102075481_102075482del , CM000672.1:g.102075481_102075482del	GRCh37
NC_000010.9:g.102065471_102065472del	NCBI36
NG_047099.1:g.35800_35801del

Transcript Alleles

HGVS	Amino-acid change
ENST00000318222.4:c.349+13486_349+13487del MANE Select	ENSP00000325296.3:n.349+13486_349+13487de...
ENST00000318222.3:c.349+13486_349+13487del	ENSP00000325296.3:n.349+13486_349+13487de...
ENST00000465680.2:c.104+14144_104+14145del
ENST00000528248.1:c.208+13486_208+13487del
ENST00000532547.1:c.*93+13486_*93+13487del	ENSP00000434224.1:n.*93+13486_*93+13487de...
NM_001253837.1:c.208+13486_208+13487del	NP_001240766.1:n.208+13486_208+13487del
NM_016112.2:c.349+13486_349+13487del	NP_057196.2:n.349+13486_349+13487del
XM_011540321.1:c.349+13486_349+13487del	XP_011538623.1:n.349+13486_349+13487del
XM_011540322.1:c.349+13486_349+13487del	XP_011538624.1:n.349+13486_349+13487del
XM_011540323.1:c.59-16007_59-16006del	XP_011538625.1:n.59-16007_59-16006del
XM_011540324.1:c.59-16007_59-16006del	XP_011538626.1:n.59-16007_59-16006del
XM_011540325.1:c.-11-16007_-11-16006del	XP_011538627.1:n.-11-16007_-11-16006del
XR_945861.1:n.622+13486_622+13487del
XM_011540323.3:c.59-16007_59-16006del	XP_011538625.1:n.59-16007_59-16006del
XM_011540325.3:c.-11-16007_-11-16006del	XP_011538627.1:n.-11-16007_-11-16006del
XM_017016875.2:c.59-16007_59-16006del	XP_016872364.1:n.59-16007_59-16006del
XM_017016876.1:c.101-16007_101-16006del	XP_016872365.1:n.101-16007_101-16006del
NM_016112.3:c.349+13486_349+13487del MANE Select	NP_057196.2:n.349+13486_349+13487del
NM_001253837.2:c.208+13486_208+13487del	NP_001240766.1:n.208+13486_208+13487del