Canonical Allele Identifier: CA7357956

Gene: TECPR2

Linked Data

• ClinVar Variation Id: 516666
• ClinVar RCV Id: RCV001521435 ; RCV001704798
• dbSNP Id: rs3831019
• ExAC: 14:102904551 CCCCGCTCCCTGCT / C
• gnomAD v2: 14-102904551-CCCCGCTCCCTGCT-C
• gnomAD v3: 14-102438214-CCCCGCTCCCTGCT-C
• gnomAD v4: 14-102438214-CCCCGCTCCCTGCT-C
• MyVariant Identifiers: chr14:g.102904552_102904564del (hg19) ; chr14:g.102438216_102438228del (hg38) ; chr14:g.102438215_102438227del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102438235_102438247del , CM000676.2:g.102438235_102438247del	GRCh38
NC_000014.8:g.102904572_102904584del , CM000676.1:g.102904572_102904584del	GRCh37
NC_000014.7:g.101974325_101974337del	NCBI36
NG_042851.1:g.80324_80336del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359520.12:c.2578+30_2578+42del MANE Select	ENSP00000352510.7:n.2578+30_2578+42del
ENST00000359520.11:c.2578+30_2578+42del	ENSP00000352510.7:n.2578+30_2578+42del
ENST00000558678.1:c.2578+30_2578+42del	ENSP00000453671.1:n.2578+30_2578+42del
ENST00000560060.5:n.374+30_374+42del
NM_001172631.1:c.2578+30_2578+42del	NP_001166102.1:n.2578+30_2578+42del
NM_001172631.2:c.2578+30_2578+42del	NP_001166102.1:n.2578+30_2578+42del
NM_014844.3:c.2578+30_2578+42del	NP_055659.2:n.2578+30_2578+42del
NM_014844.4:c.2578+30_2578+42del	NP_055659.2:n.2578+30_2578+42del
XM_005268246.2:c.2245+30_2245+42del	XP_005268303.1:n.2245+30_2245+42del
NM_014844.5:c.2578+30_2578+42del MANE Select	NP_055659.2:n.2578+30_2578+42del
NM_001172631.3:c.2578+30_2578+42del	NP_001166102.1:n.2578+30_2578+42del