Canonical Allele Identifier: CA2573152162

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1669379
• ClinVar RCV Id: RCV002198446
• dbSNP Id: rs2142391624

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23630485_23630486del , CM000678.2:g.23630485_23630486del	GRCh38
NC_000016.9:g.23641806_23641807del , CM000678.1:g.23641806_23641807del	GRCh37
NC_000016.8:g.23549307_23549308del	NCBI36
NG_007406.1:g.15872_15873del , LRG_308:g.15872_15873del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1691-17_1691-16del	ENSP00000460666.3:n.1691-17_1691-16del
ENST00000565038.2:c.212-1211_212-1210del	ENSP00000459882.2:n.212-1211_212-1210del
ENST00000566069.6:c.1685-17_1685-16del	ENSP00000459237.2:n.1685-17_1685-16del
ENST00000697377.2:c.1691-17_1691-16del	ENSP00000513286.2:n.1691-17_1691-16del
ENST00000697379.2:c.1691-17_1691-16del	ENSP00000513287.2:n.1691-17_1691-16del
ENST00000561514.2:c.800-17_800-16del	ENSP00000460666.2:n.800-17_800-16del
ENST00000697374.1:c.800-17_800-16del	ENSP00000513284.1:n.800-17_800-16del
ENST00000697375.1:n.3032-17_3032-16del
ENST00000697376.1:c.800-17_800-16del	ENSP00000513285.1:n.800-17_800-16del
ENST00000697377.1:c.800-17_800-16del	ENSP00000513286.1:n.800-17_800-16del
ENST00000697378.1:n.2205-17_2205-16del
ENST00000697379.1:c.800-17_800-16del	ENSP00000513287.1:n.800-17_800-16del
ENST00000697380.1:n.596_597del
ENST00000697381.1:n.380-17_380-16del
ENST00000697382.1:c.800-17_800-16del	ENSP00000513288.1:n.800-17_800-16del
ENST00000697383.1:c.49-1211_49-1210del	ENSP00000513289.1:n.49-1211_49-1210del
ENST00000697384.1:n.1839-17_1839-16del
ENST00000261584.9:c.1685-17_1685-16del MANE Select	ENSP00000261584.4:n.1685-17_1685-16del
ENST00000261584.8:c.1685-17_1685-16del	ENSP00000261584.4:n.1685-17_1685-16del
ENST00000565038.1:c.87-1211_87-1210del
ENST00000568219.5:c.800-17_800-16del	ENSP00000454703.2:n.800-17_800-16del
NM_024675.3:c.1685-17_1685-16del , LRG_308t1:c.1685-17_1685-16del	NP_078951.2:n.1685-17_1685-16del
XM_011545946.1:c.1691-17_1691-16del	XP_011544248.1:n.1691-17_1691-16del
XM_011545947.1:c.1691-17_1691-16del	XP_011544249.1:n.1691-17_1691-16del
XM_011545948.1:c.800-17_800-16del	XP_011544250.1:n.800-17_800-16del
XR_950851.1:n.2481-17_2481-16del
XM_011545946.2:c.1691-17_1691-16del	XP_011544248.1:n.1691-17_1691-16del
XM_011545947.2:c.1691-17_1691-16del	XP_011544249.1:n.1691-17_1691-16del
XM_011545948.2:c.800-17_800-16del	XP_011544250.1:n.800-17_800-16del
XM_017023671.1:c.1691-17_1691-16del	XP_016879160.1:n.1691-17_1691-16del
XM_017023672.2:c.1685-17_1685-16del	XP_016879161.1:n.1685-17_1685-16del
XM_017023673.2:c.1685-17_1685-16del	XP_016879162.1:n.1685-17_1685-16del
NM_024675.4:c.1685-17_1685-16del MANE Select	NP_078951.2:n.1685-17_1685-16del