Canonical Allele Identifier: CA2663622865
Gene: TIGD1 HGNC NCBI
CHRNG HGNC NCBI

Linked Data

gnomAD v4: 2-232545735-G-GGCATGTGGGAGTCAC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232545736_232545750dup , CM000664.2:g.232545736_232545750dup GRCh38
NC_000002.11:g.233410446_233410460dup , CM000664.1:g.233410446_233410460dup GRCh37
NC_000002.10:g.233118690_233118704dup NCBI36
NG_012954.1:g.11010_11024dup
NG_012954.2:g.11045_11059dup

Transcript Alleles

HGVS Amino-acid change
ENST00000408957.7:c.*2357_*2371dup (TIGD1) MANE Select ENSP00000386186.3:n.*2357_*2371dup
ENST00000651502.1:c.*20_*34dup (CHRNG) MANE Select ENSP00000498757.1:n.*20_*34dup
ENST00000389494.7:c.*20_*34dup (CHRNG) ENSP00000374145.3:n.*20_*34dup
NM_005199.4:c.*20_*34dup (CHRNG) NP_005190.4:n.*20_*34dup
NM_005199.5:c.*20_*34dup (CHRNG) MANE Select NP_005190.4:n.*20_*34dup
NM_145702.4:c.*2357_*2371dup (TIGD1) MANE Select NP_663748.1:n.*2357_*2371dup
Search 100 bp 5'
Search 100 bp 3'