Canonical Allele Identifier: CA1127208663

Gene: PTCSC2

Linked Data

• gnomAD v3: 9-97851955-C-CCCCCCCA
• gnomAD v4: 9-97851955-C-CCCCCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97851956_97851957insCCCCCAC , CM000671.2:g.97851956_97851957insCCCCCAC	GRCh38
NC_000009.11:g.100614238_100614239insCCCCCAC , CM000671.1:g.100614238_100614239insCCCCCAC	GRCh37
NC_000009.10:g.99654059_99654060insCCCCCAC	NCBI36
NG_011979.1:g.3702_3703insCCCCCAC

Transcript Alleles

HGVS	Amino-acid Change
XR_930158.1:n.218+920_218+921insTGGGGGG
XR_930159.1:n.218+920_218+921insTGGGGGG
XR_930160.1:n.218+920_218+921insTGGGGGG
XR_930161.1:n.218+920_218+921insTGGGGGG
NR_147055.1:n.165+960_165+961insTGGGGGG