Canonical Allele Identifier: CA618006468

Gene: PATL2

Linked Data

• dbSNP Id: rs1185022486
• gnomAD v2: 15-45003544-G-GC
• gnomAD v3: 15-44711346-G-GC
• gnomAD v4: 15-44711346-G-GC
• MyVariant Identifiers: chr15:g.45003544_45003545insC (hg19) ; chr15:g.44711346_44711347insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711348dup , CM000677.2:g.44711348dup	GRCh38
NC_000015.9:g.45003546dup , CM000677.1:g.45003546dup	GRCh37
NC_000015.8:g.42790838dup	NCBI36
NG_012920.1:g.4862dup
NG_012920.2:g.4872dup

Transcript Alleles

HGVS	Amino-acid Change
XM_011521338.1:c.-581dup	XP_011519640.1:n.-581dup
XM_011521339.1:c.-462dup	XP_011519641.1:n.-462dup
XM_011521340.1:c.-403dup	XP_011519642.1:n.-403dup
XM_011521343.1:c.-665dup	XP_011519645.1:n.-665dup
XM_011521345.1:c.-636dup	XP_011519647.1:n.-636dup
XM_011521338.3:c.-581dup	XP_011519640.1:n.-581dup
XM_011521339.3:c.-462dup	XP_011519641.1:n.-462dup
XM_011521340.3:c.-403dup	XP_011519642.1:n.-403dup
XM_011521343.3:c.-665dup	XP_011519645.1:n.-665dup
XM_011521345.3:c.-636dup	XP_011519647.1:n.-636dup
NM_001387260.1:c.-91dup	NP_001374189.1:n.-91dup