Canonical Allele Identifier: CA969306604

Gene: PATL2

Linked Data

• dbSNP Id: rs2086852394
• gnomAD v3: 15-44711109-ATCT-A
• gnomAD v4: 15-44711109-ATCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711113_44711115del , CM000677.2:g.44711113_44711115del	GRCh38
NC_000015.9:g.45003311_45003313del , CM000677.1:g.45003311_45003313del	GRCh37
NC_000015.8:g.42790603_42790605del	NCBI36
NG_012920.1:g.4627_4629del
NG_012920.2:g.4637_4639del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-346_-344del MANE Select	ENSP00000508024.1:n.-346_-344del
ENST00000558573.1:n.205_207del
XM_011521338.1:c.-346_-344del	XP_011519640.1:n.-346_-344del
XM_011521339.1:c.-227_-225del	XP_011519641.1:n.-227_-225del
XM_011521340.1:c.-168_-166del	XP_011519642.1:n.-168_-166del
XM_011521343.1:c.-430_-428del	XP_011519645.1:n.-430_-428del
XM_011521345.1:c.-401_-399del	XP_011519647.1:n.-401_-399del
XM_011521338.3:c.-346_-344del	XP_011519640.1:n.-346_-344del
XM_011521339.3:c.-227_-225del	XP_011519641.1:n.-227_-225del
XM_011521340.3:c.-168_-166del	XP_011519642.1:n.-168_-166del
XM_011521343.3:c.-430_-428del	XP_011519645.1:n.-430_-428del
XM_011521345.3:c.-401_-399del	XP_011519647.1:n.-401_-399del
NM_001387260.1:c.-76+220_-76+222del	NP_001374189.1:n.-76+220_-76+222del
NM_001387261.1:c.-168_-166del	NP_001374190.1:n.-168_-166del
NM_001387262.1:c.-436_-434del	NP_001374191.1:n.-436_-434del
NM_001387263.1:c.-346_-344del MANE Select	NP_001374192.1:n.-346_-344del