Canonical Allele Identifier: CA2618223118

Gene: PKP2

Linked Data

• gnomAD v4: 12-32802392-TACCGACTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32802396_32802403del , CM000674.2:g.32802396_32802403del	GRCh38
NC_000012.11:g.32955330_32955337del , CM000674.1:g.32955330_32955337del	GRCh37
NC_000012.10:g.32846597_32846604del	NCBI36
NG_009000.1:g.99447_99454del , LRG_398:g.99447_99454del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.670+3_670+10del
ENST00000700557.2:n.259+3_259+10del
ENST00000700559.2:c.2167+3_2167+10del
ENST00000546498.2:n.854+3_854+10del
ENST00000549461.2:n.659+50_659+57del
ENST00000700555.1:c.598+3_598+10del
ENST00000700556.1:c.638+3_638+10del
ENST00000700557.1:c.178+3_178+10del
ENST00000700558.1:n.381+3_381+10del
ENST00000700559.1:c.1382+3_1382+10del
ENST00000700560.1:n.1382+3_1382+10del
ENST00000700561.1:n.1508+3_1508+10del
ENST00000070846.11:c.2299+3_2299+10del
ENST00000340811.9:c.2167+3_2167+10del
ENST00000070846.10:c.2299+3_2299+10del
ENST00000340811.8:c.2167+3_2167+10del
ENST00000613243.1:c.2299+3_2299+10del
NM_001005242.2:c.2167+3_2167+10del
NM_004572.3:c.2299+3_2299+10del , LRG_398t1:c.2299+3_2299+10del
NM_001005242.3:c.2167+3_2167+10del
NM_004572.4:c.2299+3_2299+10del