Canonical Allele Identifier: CA2838032599

Gene: PALB2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635401_23635402insAACC , CM000678.2:g.23635401_23635402insAACC	GRCh38
NC_000016.9:g.23646722_23646723insAACC , CM000678.1:g.23646722_23646723insAACC	GRCh37
NC_000016.8:g.23554223_23554224insAACC	NCBI36
NG_007406.1:g.10957_10958insGTTG , LRG_308:g.10957_10958insGTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1151_1152insGTTG	ENSP00000460666.3:p.Ser384ArgfsTer20
ENST00000565038.2:c.211+2449_211+2450insGTTG	ENSP00000459882.2:n.211+2449_211+2450insGTTG
ENST00000566069.6:c.1145_1146insGTTG	ENSP00000459237.2:p.Ser382ArgfsTer20
ENST00000697377.2:c.1151_1152insGTTG	ENSP00000513286.2:p.Ser384ArgfsTer20
ENST00000697379.2:c.1151_1152insGTTG	ENSP00000513287.2:p.Ser384ArgfsTer20
ENST00000561514.2:c.260_261insGTTG	ENSP00000460666.2:p.Ser87ArgfsTer20
ENST00000697374.1:c.260_261insGTTG	ENSP00000513284.1:p.Ser87ArgfsTer20
ENST00000697375.1:n.2492_2493insGTTG
ENST00000697376.1:c.260_261insGTTG	ENSP00000513285.1:p.Ser87ArgfsTer20
ENST00000697377.1:c.260_261insGTTG	ENSP00000513286.1:p.Ser87ArgfsTer20
ENST00000697378.1:n.1665_1666insGTTG
ENST00000697379.1:c.260_261insGTTG	ENSP00000513287.1:p.Ser87ArgfsTer20
ENST00000697382.1:c.260_261insGTTG	ENSP00000513288.1:p.Ser87ArgfsTer20
ENST00000697383.1:c.48+5709_48+5710insGTTG	ENSP00000513289.1:n.48+5709_48+5710insGTTG
ENST00000697384.1:n.1299_1300insGTTG
ENST00000261584.9:c.1145_1146insGTTG MANE Select	ENSP00000261584.4:p.Ser382ArgfsTer20
ENST00000261584.8:c.1145_1146insGTTG	ENSP00000261584.4:p.Ser382ArgfsTer20
ENST00000565038.1:c.86+2449_86+2450insGTTG
ENST00000568219.5:c.260_261insGTTG	ENSP00000454703.2:p.Ser87ArgfsTer20
NM_024675.3:c.1145_1146insGTTG , LRG_308t1:c.1145_1146insGTTG	NP_078951.2:p.Ser382ArgfsTer20
XM_011545946.1:c.1151_1152insGTTG	XP_011544248.1:p.Ser384ArgfsTer20
XM_011545947.1:c.1151_1152insGTTG	XP_011544249.1:p.Ser384ArgfsTer20
XM_011545948.1:c.260_261insGTTG	XP_011544250.1:p.Ser87ArgfsTer20
XR_950851.1:n.1941_1942insGTTG
XM_011545946.2:c.1151_1152insGTTG	XP_011544248.1:p.Ser384ArgfsTer20
XM_011545947.2:c.1151_1152insGTTG	XP_011544249.1:p.Ser384ArgfsTer20
XM_011545948.2:c.260_261insGTTG	XP_011544250.1:p.Ser87ArgfsTer20
XM_017023671.1:c.1151_1152insGTTG	XP_016879160.1:p.Ser384ArgfsTer20
XM_017023672.2:c.1145_1146insGTTG	XP_016879161.1:p.Ser382ArgfsTer20
XM_017023673.2:c.1145_1146insGTTG	XP_016879162.1:p.Ser382ArgfsTer20
NM_024675.4:c.1145_1146insGTTG MANE Select	NP_078951.2:p.Ser382ArgfsTer20