Canonical Allele Identifier: CA279527477

Gene: PALB2

Linked Data

• ClinVar Variation Id: 830202
• ClinVar RCV Id: RCV001030405
• dbSNP Id: rs180177134
• MyVariant Identifiers: chr16:g.23619237_23619241del (hg19) ; chr16:g.23607916_23607920del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23607917_23607921del , CM000678.2:g.23607917_23607921del	GRCh38
NC_000016.9:g.23619238_23619242del , CM000678.1:g.23619238_23619242del	GRCh37
NC_000016.8:g.23526739_23526743del	NCBI36
NG_007406.1:g.38438_38442del , LRG_308:g.38438_38442del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3300_3304del	ENSP00000460666.3:p.Lys1100AsnfsTer23
ENST00000565038.2:c.*775_*779del	ENSP00000459882.2:n.*775_*779del
ENST00000566069.6:c.3202-4251_3202-4247del	ENSP00000459237.2:n.3202-4251_3202-4247del
ENST00000697377.2:c.3138_3142del	ENSP00000513286.2:p.Lys1046AsnfsTer23
ENST00000697379.2:c.3300_3304del	ENSP00000513287.2:p.Lys1100AsnfsTer23
ENST00000561514.2:c.2409_2413del	ENSP00000460666.2:p.Lys803AsnfsTer23
ENST00000697374.1:c.2409_2413del	ENSP00000513284.1:p.Lys803AsnfsTer23
ENST00000697375.1:n.4641_4645del
ENST00000697376.1:c.2317-4251_2317-4247del	ENSP00000513285.1:n.2317-4251_2317-4247del
ENST00000697377.1:c.2247_2251del	ENSP00000513286.1:p.Lys749AsnfsTer23
ENST00000697378.1:n.3814_3818del
ENST00000697379.1:c.2409_2413del	ENSP00000513287.1:p.Lys803AsnfsTer23
ENST00000697380.1:n.2498_2502del
ENST00000697381.1:n.1989_1993del
ENST00000697382.1:c.*71_*75del	ENSP00000513288.1:n.*71_*75del
ENST00000697383.1:c.828_832del	ENSP00000513289.1:p.Lys276AsnfsTer23
ENST00000261584.9:c.3294_3298del MANE Select	ENSP00000261584.4:p.Lys1098AsnfsTer23
ENST00000261584.8:c.3294_3298del	ENSP00000261584.4:p.Lys1098AsnfsTer23
ENST00000566069.5:c.117-4251_117-4247del
ENST00000568219.5:c.2409_2413del	ENSP00000454703.2:p.Lys803AsnfsTer23
NM_024675.3:c.3294_3298del , LRG_308t1:c.3294_3298del	NP_078951.2:p.Lys1098AsnfsTer23
XM_011545946.1:c.3300_3304del	XP_011544248.1:p.Lys1100AsnfsTer23
XM_011545947.1:c.3208-4251_3208-4247del	XP_011544249.1:n.3208-4251_3208-4247del
XM_011545948.1:c.2409_2413del	XP_011544250.1:p.Lys803AsnfsTer23
XR_950851.1:n.4002_4006del
XM_011545946.2:c.3300_3304del	XP_011544248.1:p.Lys1100AsnfsTer23
XM_011545947.2:c.3208-4251_3208-4247del	XP_011544249.1:n.3208-4251_3208-4247del
XM_011545948.2:c.2409_2413del	XP_011544250.1:p.Lys803AsnfsTer23
XM_017023671.1:c.3120-4251_3120-4247del	XP_016879160.1:n.3120-4251_3120-4247del
XM_017023672.2:c.3114-4251_3114-4247del	XP_016879161.1:n.3114-4251_3114-4247del
XM_017023673.2:c.3202-4251_3202-4247del	XP_016879162.1:n.3202-4251_3202-4247del
NM_024675.4:c.3294_3298del MANE Select	NP_078951.2:p.Lys1098AsnfsTer23