Canonical Allele Identifier: CA891843571

Gene: PALB2

Linked Data

• ClinVar Variation Id: 575221
• ClinVar RCV Id: RCV000697381 ; RCV001176912
• dbSNP Id: rs1567206804
• MyVariant Identifiers: chr16:g.23619232_23619233del (hg19) ; chr16:g.23607911_23607912del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23607914_23607915del , CM000678.2:g.23607914_23607915del	GRCh38
NC_000016.9:g.23619235_23619236del , CM000678.1:g.23619235_23619236del	GRCh37
NC_000016.8:g.23526736_23526737del	NCBI36
NG_007406.1:g.38446_38447del , LRG_308:g.38446_38447del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3308_3309del	ENSP00000460666.3:p.Leu1103GlnfsTer21
ENST00000565038.2:c.*783_*784del	ENSP00000459882.2:n.*783_*784del
ENST00000566069.6:c.3202-4243_3202-4242del	ENSP00000459237.2:n.3202-4243_3202-4242del
ENST00000697377.2:c.3146_3147del	ENSP00000513286.2:p.Leu1049GlnfsTer21
ENST00000697379.2:c.3308_3309del	ENSP00000513287.2:p.Leu1103GlnfsTer21
ENST00000561514.2:c.2417_2418del	ENSP00000460666.2:p.Leu806GlnfsTer21
ENST00000697374.1:c.2417_2418del	ENSP00000513284.1:p.Leu806GlnfsTer21
ENST00000697375.1:n.4649_4650del
ENST00000697376.1:c.2317-4243_2317-4242del	ENSP00000513285.1:n.2317-4243_2317-4242del
ENST00000697377.1:c.2255_2256del	ENSP00000513286.1:p.Leu752GlnfsTer21
ENST00000697378.1:n.3822_3823del
ENST00000697379.1:c.2417_2418del	ENSP00000513287.1:p.Leu806GlnfsTer21
ENST00000697380.1:n.2506_2507del
ENST00000697381.1:n.1997_1998del
ENST00000697382.1:c.*79_*80del	ENSP00000513288.1:n.*79_*80del
ENST00000697383.1:c.836_837del	ENSP00000513289.1:p.Leu279GlnfsTer21
ENST00000261584.9:c.3302_3303del MANE Select	ENSP00000261584.4:p.Leu1101GlnfsTer21
ENST00000261584.8:c.3302_3303del	ENSP00000261584.4:p.Leu1101GlnfsTer21
ENST00000566069.5:c.117-4243_117-4242del
ENST00000568219.5:c.2417_2418del	ENSP00000454703.2:p.Leu806GlnfsTer21
NM_024675.3:c.3302_3303del , LRG_308t1:c.3302_3303del	NP_078951.2:p.Leu1101GlnfsTer21
XM_011545946.1:c.3308_3309del	XP_011544248.1:p.Leu1103GlnfsTer21
XM_011545947.1:c.3208-4243_3208-4242del	XP_011544249.1:n.3208-4243_3208-4242del
XM_011545948.1:c.2417_2418del	XP_011544250.1:p.Leu806GlnfsTer21
XR_950851.1:n.4010_4011del
XM_011545946.2:c.3308_3309del	XP_011544248.1:p.Leu1103GlnfsTer21
XM_011545947.2:c.3208-4243_3208-4242del	XP_011544249.1:n.3208-4243_3208-4242del
XM_011545948.2:c.2417_2418del	XP_011544250.1:p.Leu806GlnfsTer21
XM_017023671.1:c.3120-4243_3120-4242del	XP_016879160.1:n.3120-4243_3120-4242del
XM_017023672.2:c.3114-4243_3114-4242del	XP_016879161.1:n.3114-4243_3114-4242del
XM_017023673.2:c.3202-4243_3202-4242del	XP_016879162.1:n.3202-4243_3202-4242del
NM_024675.4:c.3302_3303del MANE Select	NP_078951.2:p.Leu1101GlnfsTer21