Canonical Allele Identifier: CA1127208655

Gene: PTCSC2

Linked Data

• gnomAD v3: 9-97851952-A-ACCCCCC
• gnomAD v4: 9-97851952-A-ACCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97851956_97851957insCCCCCC , CM000671.2:g.97851956_97851957insCCCCCC	GRCh38
NC_000009.11:g.100614238_100614239insCCCCCC , CM000671.1:g.100614238_100614239insCCCCCC	GRCh37
NC_000009.10:g.99654059_99654060insCCCCCC	NCBI36
NG_011979.1:g.3702_3703insCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
XR_930158.1:n.218+923_218+924insGGGGGG
XR_930159.1:n.218+923_218+924insGGGGGG
XR_930160.1:n.218+923_218+924insGGGGGG
XR_930161.1:n.218+923_218+924insGGGGGG
NR_147055.1:n.165+963_165+964insGGGGGG