Canonical Allele Identifier: CA7033351

Gene: PCCA

Linked Data

• dbSNP Id: rs749217116
• ExAC: 13:100914947 T / TCCC
• MyVariant Identifiers: chr13:g.100914948_100914949insCCC (hg19) ; chr13:g.100914947_100914948insCCC (hg19) ; chr13:g.100262693_100262694insCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100262698_100262700dup , CM000675.2:g.100262698_100262700dup	GRCh38
NC_000013.10:g.100914952_100914954dup , CM000675.1:g.100914952_100914954dup	GRCh37
NC_000013.9:g.99712953_99712955dup	NCBI36
NG_008768.1:g.178616_178618dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000376285.6:c.717-31_717-29dup MANE Select	ENSP00000365462.1:n.717-31_717-29dup
ENST00000636366.1:c.596-31_596-29dup
ENST00000636420.1:c.596-31_596-29dup
ENST00000636475.1:c.596-31_596-29dup
ENST00000637657.1:c.596-31_596-29dup
ENST00000647303.1:c.*565-31_*565-29dup	ENSP00000495663.1:n.*565-31_*565-29dup
ENST00000376279.7:c.717-31_717-29dup	ENSP00000365456.3:n.717-31_717-29dup
ENST00000376285.5:c.717-31_717-29dup	ENSP00000365462.1:n.717-31_717-29dup
ENST00000376286.8:c.639-31_639-29dup	ENSP00000365463.4:n.639-31_639-29dup
NM_000282.3:c.717-31_717-29dup	NP_000273.2:n.717-31_717-29dup
NM_001127692.2:c.639-31_639-29dup	NP_001121164.1:n.639-31_639-29dup
NM_001178004.1:c.717-31_717-29dup	NP_001171475.1:n.717-31_717-29dup
XM_005254059.2:c.717-31_717-29dup	XP_005254116.1:n.717-31_717-29dup
XM_011521093.1:c.717-31_717-29dup	XP_011519395.1:n.717-31_717-29dup
XR_931615.1:n.818-31_818-29dup
XR_931616.1:n.818-31_818-29dup
NM_001352605.1:c.717-31_717-29dup	NP_001339534.1:n.717-31_717-29dup
NM_001352606.1:c.717-31_717-29dup	NP_001339535.1:n.717-31_717-29dup
NM_001352607.1:c.639-31_639-29dup	NP_001339536.1:n.639-31_639-29dup
NM_001352608.1:c.639-31_639-29dup	NP_001339537.1:n.639-31_639-29dup
NM_001352609.1:c.717-31_717-29dup	NP_001339538.1:n.717-31_717-29dup
NM_001352610.1:c.-229-31_-229-29dup	NP_001339539.1:n.-229-31_-229-29dup
NM_001352611.1:c.-229-31_-229-29dup	NP_001339540.1:n.-229-31_-229-29dup
NM_001352612.1:c.-229-31_-229-29dup	NP_001339541.1:n.-229-31_-229-29dup
NR_148027.1:n.823-31_823-29dup
NR_148028.1:n.823-31_823-29dup
NR_148029.1:n.745-31_745-29dup
NR_148030.1:n.823-31_823-29dup
NR_148031.1:n.823-31_823-29dup
XM_017020605.1:c.717-31_717-29dup	XP_016876094.1:n.717-31_717-29dup
XM_017020606.1:c.639-31_639-29dup	XP_016876095.1:n.639-31_639-29dup
XM_017020607.1:c.618-31_618-29dup	XP_016876096.1:n.618-31_618-29dup
XM_017020609.1:c.618-31_618-29dup	XP_016876098.1:n.618-31_618-29dup
XM_017020611.1:c.717-31_717-29dup	XP_016876100.1:n.717-31_717-29dup
XM_017020612.1:c.717-31_717-29dup	XP_016876101.1:n.717-31_717-29dup
XM_017020613.1:c.717-31_717-29dup	XP_016876102.1:n.717-31_717-29dup
XM_017020615.1:c.717-31_717-29dup	XP_016876104.1:n.717-31_717-29dup
XM_017020616.1:c.717-31_717-29dup	XP_016876105.1:n.717-31_717-29dup
XR_001749567.1:n.818-31_818-29dup
XR_001749568.1:n.818-31_818-29dup
XR_001749569.1:n.818-31_818-29dup
XR_001749574.1:n.669-31_669-29dup
XR_001749576.1:n.818-31_818-29dup
XR_001749577.1:n.818-31_818-29dup
NM_000282.4:c.717-31_717-29dup MANE Select	NP_000273.2:n.717-31_717-29dup
NM_001352605.2:c.717-31_717-29dup	NP_001339534.1:n.717-31_717-29dup
NM_001352606.2:c.717-31_717-29dup	NP_001339535.1:n.717-31_717-29dup
NM_001352607.2:c.639-31_639-29dup	NP_001339536.1:n.639-31_639-29dup
NM_001352608.2:c.639-31_639-29dup	NP_001339537.1:n.639-31_639-29dup
NM_001352609.2:c.717-31_717-29dup	NP_001339538.1:n.717-31_717-29dup
NM_001352610.2:c.-229-31_-229-29dup	NP_001339539.1:n.-229-31_-229-29dup
NM_001352611.2:c.-229-31_-229-29dup	NP_001339540.1:n.-229-31_-229-29dup
NM_001352612.2:c.-229-31_-229-29dup	NP_001339541.1:n.-229-31_-229-29dup
NR_148027.2:n.745-31_745-29dup
NR_148028.2:n.745-31_745-29dup
NR_148029.2:n.667-31_667-29dup
NR_148030.2:n.745-31_745-29dup
NR_148031.2:n.745-31_745-29dup
NM_001127692.3:c.639-31_639-29dup	NP_001121164.1:n.639-31_639-29dup
NM_001178004.2:c.717-31_717-29dup	NP_001171475.1:n.717-31_717-29dup