Canonical Allele Identifier: CA2658450991

Gene: PCARE

Linked Data

• gnomAD v4: 2-29073075-G-GGACTT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29073075_29073076insGACTT , CM000664.2:g.29073075_29073076insGACTT	GRCh38
NC_000002.11:g.29295941_29295942insGACTT , CM000664.1:g.29295941_29295942insGACTT	GRCh37
NC_000002.10:g.29149445_29149446insGACTT	NCBI36
NG_021427.1:g.6186_6187insAAGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.1186_1187insAAGTC MANE Select	ENSP00000332809.4:p.Thr396LysfsTer?
ENST00000331664.5:c.1186_1187insAAGTC	ENSP00000332809.4:p.Thr396LysfsTer?
NM_001029883.2:c.1186_1187insAAGTC	NP_001025054.1:p.Thr396LysfsTer?
XM_011532826.1:c.1186_1187insAAGTC	XP_011531128.1:p.Thr396LysfsTer?
XR_939901.1:n.185+3908_185+3909insGACTT
XR_939902.1:n.173+3920_173+3921insGACTT
NM_001029883.3:c.1186_1187insAAGTC MANE Select	NP_001025054.1:p.Thr396LysfsTer?