Canonical Allele Identifier: CA2695197578

Gene: PALB2

Linked Data

• ClinVar Variation Id: 2674056
• ClinVar RCV Id: RCV003452252

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23607877_23607881delinsTGG , CM000678.2:g.23607877_23607881delinsTGG	GRCh38
NC_000016.9:g.23619198_23619202delinsTGG , CM000678.1:g.23619198_23619202delinsTGG	GRCh37
NC_000016.8:g.23526699_23526703delinsTGG	NCBI36
NG_007406.1:g.38477_38481delinsCCA , LRG_308:g.38477_38481delinsCCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3339_3343delinsCCA	ENSP00000460666.3:p.Pro1114GlnfsTer10
ENST00000565038.2:c.*814_*818delinsCCA	ENSP00000459882.2:n.*814_*818delinsCCA
ENST00000566069.6:c.3202-4212_3202-4208delinsCCA	ENSP00000459237.2:n.3202-4212_3202-4208delinsCCA
ENST00000697377.2:c.3177_3181delinsCCA	ENSP00000513286.2:p.Pro1060GlnfsTer10
ENST00000697379.2:c.3339_3343delinsCCA	ENSP00000513287.2:p.Pro1114GlnfsTer10
ENST00000561514.2:c.2448_2452delinsCCA	ENSP00000460666.2:p.Pro817GlnfsTer10
ENST00000697374.1:c.2448_2452delinsCCA	ENSP00000513284.1:p.Pro817GlnfsTer10
ENST00000697375.1:n.4680_4684delinsCCA
ENST00000697376.1:c.2317-4212_2317-4208delinsCCA	ENSP00000513285.1:n.2317-4212_2317-4208delinsCCA
ENST00000697377.1:c.2286_2290delinsCCA	ENSP00000513286.1:p.Pro763GlnfsTer10
ENST00000697378.1:n.3853_3857delinsCCA
ENST00000697379.1:c.2448_2452delinsCCA	ENSP00000513287.1:p.Pro817GlnfsTer10
ENST00000697380.1:n.2537_2541delinsCCA
ENST00000697381.1:n.2028_2032delinsCCA
ENST00000697382.1:c.*110_*114delinsCCA	ENSP00000513288.1:n.*110_*114delinsCCA
ENST00000697383.1:c.867_871delinsCCA	ENSP00000513289.1:p.Pro290GlnfsTer10
ENST00000261584.9:c.3333_3337delinsCCA MANE Select	ENSP00000261584.4:p.Pro1112GlnfsTer10
ENST00000261584.8:c.3333_3337delinsCCA	ENSP00000261584.4:p.Pro1112GlnfsTer10
ENST00000566069.5:c.117-4212_117-4208delinsCCA
ENST00000568219.5:c.2448_2452delinsCCA	ENSP00000454703.2:p.Pro817GlnfsTer10
NM_024675.3:c.3333_3337delinsCCA , LRG_308t1:c.3333_3337delinsCCA	NP_078951.2:p.Pro1112GlnfsTer10
XM_011545946.1:c.3339_3343delinsCCA	XP_011544248.1:p.Pro1114GlnfsTer10
XM_011545947.1:c.3208-4212_3208-4208delinsCCA	XP_011544249.1:n.3208-4212_3208-4208delinsCCA
XM_011545948.1:c.2448_2452delinsCCA	XP_011544250.1:p.Pro817GlnfsTer10
XR_950851.1:n.4041_4045delinsCCA
XM_011545946.2:c.3339_3343delinsCCA	XP_011544248.1:p.Pro1114GlnfsTer10
XM_011545947.2:c.3208-4212_3208-4208delinsCCA	XP_011544249.1:n.3208-4212_3208-4208delinsCCA
XM_011545948.2:c.2448_2452delinsCCA	XP_011544250.1:p.Pro817GlnfsTer10
XM_017023671.1:c.3120-4212_3120-4208delinsCCA	XP_016879160.1:n.3120-4212_3120-4208delinsCCA
XM_017023672.2:c.3114-4212_3114-4208delinsCCA	XP_016879161.1:n.3114-4212_3114-4208delinsCCA
XM_017023673.2:c.3202-4212_3202-4208delinsCCA	XP_016879162.1:n.3202-4212_3202-4208delinsCCA
NM_024675.4:c.3333_3337delinsCCA MANE Select	NP_078951.2:p.Pro1112GlnfsTer10