Canonical Allele Identifier: CA2617795849
Gene: PDE6H HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14977876_14977879dup , CM000674.2:g.14977876_14977879dup GRCh38
NC_000012.11:g.15130810_15130813dup , CM000674.1:g.15130810_15130813dup GRCh37
NC_000012.10:g.15022077_15022080dup NCBI36
NG_016859.1:g.9855_9858dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000266395.3:c.-41-96_-41-93dup MANE Select ENSP00000266395.2:n.-41-96_-41-93dup
ENST00000266395.2:c.-41-96_-41-93dup ENSP00000266395.2:n.-41-96_-41-93dup
NM_006205.2:c.-41-96_-41-93dup NP_006196.1:n.-41-96_-41-93dup
XR_931376.1:n.175+11608_175+11611dup
XM_017019431.2:c.-137_-134dup XP_016874920.1:n.-137_-134dup
XR_931376.2:n.389+11608_389+11611dup
NM_006205.3:c.-41-96_-41-93dup MANE Select NP_006196.1:n.-41-96_-41-93dup