Canonical Allele Identifier: CA2658450992

Gene: PCARE

Linked Data

• gnomAD v4: 2-29073097-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29073102_29073103del , CM000664.2:g.29073102_29073103del	GRCh38
NC_000002.11:g.29295968_29295969del , CM000664.1:g.29295968_29295969del	GRCh37
NC_000002.10:g.29149472_29149473del	NCBI36
NG_021427.1:g.6163_6164del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.1163_1164del MANE Select	ENSP00000332809.4:p.Thr388ArgfsTer?
ENST00000331664.5:c.1163_1164del	ENSP00000332809.4:p.Thr388ArgfsTer?
NM_001029883.2:c.1163_1164del	NP_001025054.1:p.Thr388ArgfsTer?
XM_011532826.1:c.1163_1164del	XP_011531128.1:p.Thr388ArgfsTer?
XR_939901.1:n.185+3935_185+3936del
XR_939902.1:n.173+3947_173+3948del
NM_001029883.3:c.1163_1164del MANE Select	NP_001025054.1:p.Thr388ArgfsTer?