Canonical Allele Identifier: CA2213424266

Gene: PALB2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23630272_23630274delinsTCA , CM000678.2:g.23630272_23630274delinsTCA	GRCh38
NC_000016.9:g.23641593_23641595delinsTCA , CM000678.1:g.23641593_23641595delinsTCA	GRCh37
NC_000016.8:g.23549094_23549096delinsTCA	NCBI36
NG_007406.1:g.16084_16086delinsTGA , LRG_308:g.16084_16086delinsTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1886_1888delinsTGA	ENSP00000460666.3:p.Val629=
ENST00000565038.2:c.212-999_212-997delinsTGA	ENSP00000459882.2:n.212-999_212-997delinsTGA
ENST00000566069.6:c.1880_1882delinsTGA	ENSP00000459237.2:p.Val627=
ENST00000697377.2:c.1886_1888delinsTGA	ENSP00000513286.2:p.Val629=
ENST00000697379.2:c.1886_1888delinsTGA	ENSP00000513287.2:p.Val629=
ENST00000561514.2:c.995_997delinsTGA	ENSP00000460666.2:p.Val332=
ENST00000697374.1:c.995_997delinsTGA	ENSP00000513284.1:p.Val332=
ENST00000697375.1:n.3227_3229delinsTGA
ENST00000697376.1:c.995_997delinsTGA	ENSP00000513285.1:p.Val332=
ENST00000697377.1:c.995_997delinsTGA	ENSP00000513286.1:p.Val332=
ENST00000697378.1:n.2400_2402delinsTGA
ENST00000697379.1:c.995_997delinsTGA	ENSP00000513287.1:p.Val332=
ENST00000697380.1:n.808_810delinsTGA
ENST00000697381.1:n.575_577delinsTGA
ENST00000697382.1:c.995_997delinsTGA	ENSP00000513288.1:p.Val332=
ENST00000697383.1:c.49-999_49-997delinsTGA	ENSP00000513289.1:n.49-999_49-997delinsTGA
ENST00000697384.1:n.2034_2036delinsTGA
ENST00000261584.9:c.1880_1882delinsTGA MANE Select	ENSP00000261584.4:p.Val627=
ENST00000261584.8:c.1880_1882delinsTGA	ENSP00000261584.4:p.Val627=
ENST00000565038.1:c.87-999_87-997delinsTGA
ENST00000568219.5:c.995_997delinsTGA	ENSP00000454703.2:p.Val332=
NM_024675.3:c.1880_1882delinsTGA , LRG_308t1:c.1880_1882delinsTGA	NP_078951.2:p.Val627=
XM_011545946.1:c.1886_1888delinsTGA	XP_011544248.1:p.Val629=
XM_011545947.1:c.1886_1888delinsTGA	XP_011544249.1:p.Val629=
XM_011545948.1:c.995_997delinsTGA	XP_011544250.1:p.Val332=
XR_950851.1:n.2676_2678delinsTGA
XM_011545946.2:c.1886_1888delinsTGA	XP_011544248.1:p.Val629=
XM_011545947.2:c.1886_1888delinsTGA	XP_011544249.1:p.Val629=
XM_011545948.2:c.995_997delinsTGA	XP_011544250.1:p.Val332=
XM_017023671.1:c.1886_1888delinsTGA	XP_016879160.1:p.Val629=
XM_017023672.2:c.1880_1882delinsTGA	XP_016879161.1:p.Val627=
XM_017023673.2:c.1880_1882delinsTGA	XP_016879162.1:p.Val627=
NM_024675.4:c.1880_1882delinsTGA MANE Select	NP_078951.2:p.Val627=