Canonical Allele Identifier: CA2213429495

Gene: PALB2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635504_23635508delinsGTTCT , CM000678.2:g.23635504_23635508delinsGTTCT	GRCh38
NC_000016.9:g.23646825_23646829delinsGTTCT , CM000678.1:g.23646825_23646829delinsGTTCT	GRCh37
NC_000016.8:g.23554326_23554330delinsGTTCT	NCBI36
NG_007406.1:g.10850_10854delinsAGAAC , LRG_308:g.10850_10854delinsAGAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1044_1048delinsAGAAC	ENSP00000460666.3:p.Lys348=
ENST00000565038.2:c.211+2342_211+2346delinsAGAAC	ENSP00000459882.2:n.211+2342_211+2346delinsAGAAC
ENST00000566069.6:c.1038_1042delinsAGAAC	ENSP00000459237.2:p.Lys346=
ENST00000697377.2:c.1044_1048delinsAGAAC	ENSP00000513286.2:p.Lys348=
ENST00000697379.2:c.1044_1048delinsAGAAC	ENSP00000513287.2:p.Lys348=
ENST00000561514.2:c.153_157delinsAGAAC	ENSP00000460666.2:p.Lys51=
ENST00000697374.1:c.153_157delinsAGAAC	ENSP00000513284.1:p.Lys51=
ENST00000697375.1:n.2385_2389delinsAGAAC
ENST00000697376.1:c.153_157delinsAGAAC	ENSP00000513285.1:p.Lys51=
ENST00000697377.1:c.153_157delinsAGAAC	ENSP00000513286.1:p.Lys51=
ENST00000697378.1:n.1558_1562delinsAGAAC
ENST00000697379.1:c.153_157delinsAGAAC	ENSP00000513287.1:p.Lys51=
ENST00000697382.1:c.153_157delinsAGAAC	ENSP00000513288.1:p.Lys51=
ENST00000697383.1:c.48+5602_48+5606delinsAGAAC	ENSP00000513289.1:n.48+5602_48+5606delinsAGAAC
ENST00000697384.1:n.1192_1196delinsAGAAC
ENST00000261584.9:c.1038_1042delinsAGAAC MANE Select	ENSP00000261584.4:p.Lys346=
ENST00000261584.8:c.1038_1042delinsAGAAC	ENSP00000261584.4:p.Lys346=
ENST00000565038.1:c.86+2342_86+2346delinsAGAAC
ENST00000568219.5:c.153_157delinsAGAAC	ENSP00000454703.2:p.Lys51=
NM_024675.3:c.1038_1042delinsAGAAC , LRG_308t1:c.1038_1042delinsAGAAC	NP_078951.2:p.Lys346=
XM_011545946.1:c.1044_1048delinsAGAAC	XP_011544248.1:p.Lys348=
XM_011545947.1:c.1044_1048delinsAGAAC	XP_011544249.1:p.Lys348=
XM_011545948.1:c.153_157delinsAGAAC	XP_011544250.1:p.Lys51=
XR_950851.1:n.1834_1838delinsAGAAC
XM_011545946.2:c.1044_1048delinsAGAAC	XP_011544248.1:p.Lys348=
XM_011545947.2:c.1044_1048delinsAGAAC	XP_011544249.1:p.Lys348=
XM_011545948.2:c.153_157delinsAGAAC	XP_011544250.1:p.Lys51=
XM_017023671.1:c.1044_1048delinsAGAAC	XP_016879160.1:p.Lys348=
XM_017023672.2:c.1038_1042delinsAGAAC	XP_016879161.1:p.Lys346=
XM_017023673.2:c.1038_1042delinsAGAAC	XP_016879162.1:p.Lys346=
NM_024675.4:c.1038_1042delinsAGAAC MANE Select	NP_078951.2:p.Lys346=