Canonical Allele Identifier: CA2213422256

Gene: PALB2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23629781_23629785delinsCACTT , CM000678.2:g.23629781_23629785delinsCACTT	GRCh38
NC_000016.9:g.23641102_23641106delinsCACTT , CM000678.1:g.23641102_23641106delinsCACTT	GRCh37
NC_000016.8:g.23548603_23548607delinsCACTT	NCBI36
NG_007406.1:g.16573_16577delinsAAGTG , LRG_308:g.16573_16577delinsAAGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2375_2379delinsAAGTG	ENSP00000460666.3:p.Gln792=
ENST00000565038.2:c.212-510_212-506delinsAAGTG	ENSP00000459882.2:n.212-510_212-506delinsAAGTG
ENST00000566069.6:c.2369_2373delinsAAGTG	ENSP00000459237.2:p.Gln790=
ENST00000697377.2:c.2375_2379delinsAAGTG	ENSP00000513286.2:p.Gln792=
ENST00000697379.2:c.2375_2379delinsAAGTG	ENSP00000513287.2:p.Gln792=
ENST00000561514.2:c.1484_1488delinsAAGTG	ENSP00000460666.2:p.Gln495=
ENST00000697374.1:c.1484_1488delinsAAGTG	ENSP00000513284.1:p.Gln495=
ENST00000697375.1:n.3716_3720delinsAAGTG
ENST00000697376.1:c.1484_1488delinsAAGTG	ENSP00000513285.1:p.Gln495=
ENST00000697377.1:c.1484_1488delinsAAGTG	ENSP00000513286.1:p.Gln495=
ENST00000697378.1:n.2889_2893delinsAAGTG
ENST00000697379.1:c.1484_1488delinsAAGTG	ENSP00000513287.1:p.Gln495=
ENST00000697380.1:n.1297_1301delinsAAGTG
ENST00000697381.1:n.1064_1068delinsAAGTG
ENST00000697382.1:c.1484_1488delinsAAGTG	ENSP00000513288.1:p.Gln495=
ENST00000697383.1:c.49-510_49-506delinsAAGTG	ENSP00000513289.1:n.49-510_49-506delinsAAGTG
ENST00000697384.1:n.2523_2527delinsAAGTG
ENST00000261584.9:c.2369_2373delinsAAGTG MANE Select	ENSP00000261584.4:p.Gln790=
ENST00000261584.8:c.2369_2373delinsAAGTG	ENSP00000261584.4:p.Gln790=
ENST00000565038.1:c.87-510_87-506delinsAAGTG
ENST00000568219.5:c.1484_1488delinsAAGTG	ENSP00000454703.2:p.Gln495=
NM_024675.3:c.2369_2373delinsAAGTG , LRG_308t1:c.2369_2373delinsAAGTG	NP_078951.2:p.Gln790=
XM_011545946.1:c.2375_2379delinsAAGTG	XP_011544248.1:p.Gln792=
XM_011545947.1:c.2375_2379delinsAAGTG	XP_011544249.1:p.Gln792=
XM_011545948.1:c.1484_1488delinsAAGTG	XP_011544250.1:p.Gln495=
XR_950851.1:n.3165_3169delinsAAGTG
XM_011545946.2:c.2375_2379delinsAAGTG	XP_011544248.1:p.Gln792=
XM_011545947.2:c.2375_2379delinsAAGTG	XP_011544249.1:p.Gln792=
XM_011545948.2:c.1484_1488delinsAAGTG	XP_011544250.1:p.Gln495=
XM_017023671.1:c.2375_2379delinsAAGTG	XP_016879160.1:p.Gln792=
XM_017023672.2:c.2369_2373delinsAAGTG	XP_016879161.1:p.Gln790=
XM_017023673.2:c.2369_2373delinsAAGTG	XP_016879162.1:p.Gln790=
NM_024675.4:c.2369_2373delinsAAGTG MANE Select	NP_078951.2:p.Gln790=