Canonical Allele Identifier: CA10584504

Gene: PALB2

Linked Data

• ClinVar Variation Id: 246099
• ClinVar RCV Id: RCV000235324 ; RCV001019200
• dbSNP Id: rs879254100
• MyVariant Identifiers: chr16:g.23625317_23625320del (hg19) ; chr16:g.23613996_23613999del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23614000_23614003del , CM000678.2:g.23614000_23614003del	GRCh38
NC_000016.9:g.23625321_23625324del , CM000678.1:g.23625321_23625324del	GRCh37
NC_000016.8:g.23532822_23532825del	NCBI36
NG_007406.1:g.32359_32362del , LRG_308:g.32359_32362del

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3207+5_3207+8del	ENSP00000460666.3:n.3207+5_3207+8del
ENST00000565038.2:c.*682+5_*682+8del	ENSP00000459882.2:n.*682+5_*682+8del
ENST00000566069.6:c.3201+5_3201+8del	ENSP00000459237.2:n.3201+5_3201+8del
ENST00000697377.2:c.3045+5_3045+8del	ENSP00000513286.2:n.3045+5_3045+8del
ENST00000697379.2:c.3207+5_3207+8del	ENSP00000513287.2:n.3207+5_3207+8del
ENST00000561514.2:c.2316+5_2316+8del	ENSP00000460666.2:n.2316+5_2316+8del
ENST00000697374.1:c.2316+5_2316+8del	ENSP00000513284.1:n.2316+5_2316+8del
ENST00000697375.1:n.4548+5_4548+8del
ENST00000697376.1:c.2316+5_2316+8del	ENSP00000513285.1:n.2316+5_2316+8del
ENST00000697377.1:c.2154+5_2154+8del	ENSP00000513286.1:n.2154+5_2154+8del
ENST00000697378.1:n.3721+5_3721+8del
ENST00000697379.1:c.2316+5_2316+8del	ENSP00000513287.1:n.2316+5_2316+8del
ENST00000697380.1:n.2406-5987_2406-5984del
ENST00000697381.1:n.1896+5_1896+8del
ENST00000697382.1:c.2229-5987_2229-5984del	ENSP00000513288.1:n.2229-5987_2229-5984de...
ENST00000697383.1:c.735+5_735+8del	ENSP00000513289.1:n.735+5_735+8del
ENST00000261584.9:c.3201+5_3201+8del MANE Select	ENSP00000261584.4:n.3201+5_3201+8del
ENST00000261584.8:c.3201+5_3201+8del	ENSP00000261584.4:n.3201+5_3201+8del
ENST00000566069.5:c.116+5_116+8del
ENST00000568219.5:c.2316+5_2316+8del	ENSP00000454703.2:n.2316+5_2316+8del
NM_024675.3:c.3201+5_3201+8del , LRG_308t1:c.3201+5_3201+8del	NP_078951.2:n.3201+5_3201+8del
XM_011545946.1:c.3207+5_3207+8del	XP_011544248.1:n.3207+5_3207+8del
XM_011545947.1:c.3207+5_3207+8del	XP_011544249.1:n.3207+5_3207+8del
XM_011545948.1:c.2316+5_2316+8del	XP_011544250.1:n.2316+5_2316+8del
XR_950851.1:n.3910-5987_3910-5984del
XM_011545946.2:c.3207+5_3207+8del	XP_011544248.1:n.3207+5_3207+8del
XM_011545947.2:c.3207+5_3207+8del	XP_011544249.1:n.3207+5_3207+8del
XM_011545948.2:c.2316+5_2316+8del	XP_011544250.1:n.2316+5_2316+8del
XM_017023671.1:c.3119+7363_3119+7366del	XP_016879160.1:n.3119+7363_3119+7366del
XM_017023672.2:c.3113+7363_3113+7366del	XP_016879161.1:n.3113+7363_3113+7366del
XM_017023673.2:c.3201+5_3201+8del	XP_016879162.1:n.3201+5_3201+8del
NM_024675.4:c.3201+5_3201+8del MANE Select	NP_078951.2:n.3201+5_3201+8del