Canonical Allele Identifier: CA2628214281

Gene: PATL2

Linked Data

• gnomAD v4: 15-44711201-GGCCAGTCTGCAAAGCGAGGGGGCAGCCTTAATGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711205_44711238del , CM000677.2:g.44711205_44711238del	GRCh38
NC_000015.9:g.45003403_45003436del , CM000677.1:g.45003403_45003436del	GRCh37
NC_000015.8:g.42790695_42790728del	NCBI36
NG_012920.1:g.4719_4752del
NG_012920.2:g.4729_4762del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-469_-436del MANE Select	ENSP00000508024.1:n.-469_-436del
ENST00000558573.1:n.82_115del
XM_011521338.1:c.-469_-436del	XP_011519640.1:n.-469_-436del
XM_011521339.1:c.-350_-317del	XP_011519641.1:n.-350_-317del
XM_011521340.1:c.-291_-258del	XP_011519642.1:n.-291_-258del
XM_011521343.1:c.-553_-520del	XP_011519645.1:n.-553_-520del
XM_011521345.1:c.-524_-491del	XP_011519647.1:n.-524_-491del
XM_011521338.3:c.-469_-436del	XP_011519640.1:n.-469_-436del
XM_011521339.3:c.-350_-317del	XP_011519641.1:n.-350_-317del
XM_011521340.3:c.-291_-258del	XP_011519642.1:n.-291_-258del
XM_011521343.3:c.-553_-520del	XP_011519645.1:n.-553_-520del
XM_011521345.3:c.-524_-491del	XP_011519647.1:n.-524_-491del
NM_001387260.1:c.-76+97_-76+130del	NP_001374189.1:n.-76+97_-76+130del
NM_001387261.1:c.-291_-258del	NP_001374190.1:n.-291_-258del
NM_001387262.1:c.-559_-526del	NP_001374191.1:n.-559_-526del
NM_001387263.1:c.-469_-436del MANE Select	NP_001374192.1:n.-469_-436del