Canonical Allele Identifier: CA7963678

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1697760
• ClinVar RCV Id: RCV002269044
• dbSNP Id: rs775516114
• ExAC: 16:23641836 AACAG / A
• gnomAD v2: 16-23641836-AACAG-A
• gnomAD v3: 16-23630515-AACAG-A
• gnomAD v4: 16-23630515-AACAG-A
• MyVariant Identifiers: chr16:g.23641837_23641840del (hg19) ; chr16:g.23630516_23630519del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23630519_23630522del , CM000678.2:g.23630519_23630522del	GRCh38
NC_000016.9:g.23641840_23641843del , CM000678.1:g.23641840_23641843del	GRCh37
NC_000016.8:g.23549341_23549344del	NCBI36
NG_007406.1:g.15839_15842del , LRG_308:g.15839_15842del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1691-50_1691-47del	ENSP00000460666.3:n.1691-50_1691-47del
ENST00000565038.2:c.212-1244_212-1241del	ENSP00000459882.2:n.212-1244_212-1241del
ENST00000566069.6:c.1685-50_1685-47del	ENSP00000459237.2:n.1685-50_1685-47del
ENST00000697377.2:c.1691-50_1691-47del	ENSP00000513286.2:n.1691-50_1691-47del
ENST00000697379.2:c.1691-50_1691-47del	ENSP00000513287.2:n.1691-50_1691-47del
ENST00000561514.2:c.800-50_800-47del	ENSP00000460666.2:n.800-50_800-47del
ENST00000697374.1:c.800-50_800-47del	ENSP00000513284.1:n.800-50_800-47del
ENST00000697375.1:n.3032-50_3032-47del
ENST00000697376.1:c.800-50_800-47del	ENSP00000513285.1:n.800-50_800-47del
ENST00000697377.1:c.800-50_800-47del	ENSP00000513286.1:n.800-50_800-47del
ENST00000697378.1:n.2205-50_2205-47del
ENST00000697379.1:c.800-50_800-47del	ENSP00000513287.1:n.800-50_800-47del
ENST00000697380.1:n.563_566del
ENST00000697381.1:n.380-50_380-47del
ENST00000697382.1:c.800-50_800-47del	ENSP00000513288.1:n.800-50_800-47del
ENST00000697383.1:c.49-1244_49-1241del	ENSP00000513289.1:n.49-1244_49-1241del
ENST00000697384.1:n.1839-50_1839-47del
ENST00000261584.9:c.1685-50_1685-47del MANE Select	ENSP00000261584.4:n.1685-50_1685-47del
ENST00000261584.8:c.1685-50_1685-47del	ENSP00000261584.4:n.1685-50_1685-47del
ENST00000565038.1:c.87-1244_87-1241del
ENST00000568219.5:c.800-50_800-47del	ENSP00000454703.2:n.800-50_800-47del
NM_024675.3:c.1685-50_1685-47del , LRG_308t1:c.1685-50_1685-47del	NP_078951.2:n.1685-50_1685-47del
XM_011545946.1:c.1691-50_1691-47del	XP_011544248.1:n.1691-50_1691-47del
XM_011545947.1:c.1691-50_1691-47del	XP_011544249.1:n.1691-50_1691-47del
XM_011545948.1:c.800-50_800-47del	XP_011544250.1:n.800-50_800-47del
XR_950851.1:n.2481-50_2481-47del
XM_011545946.2:c.1691-50_1691-47del	XP_011544248.1:n.1691-50_1691-47del
XM_011545947.2:c.1691-50_1691-47del	XP_011544249.1:n.1691-50_1691-47del
XM_011545948.2:c.800-50_800-47del	XP_011544250.1:n.800-50_800-47del
XM_017023671.1:c.1691-50_1691-47del	XP_016879160.1:n.1691-50_1691-47del
XM_017023672.2:c.1685-50_1685-47del	XP_016879161.1:n.1685-50_1685-47del
XM_017023673.2:c.1685-50_1685-47del	XP_016879162.1:n.1685-50_1685-47del
NM_024675.4:c.1685-50_1685-47del MANE Select	NP_078951.2:n.1685-50_1685-47del