Canonical Allele Identifier: CA2758482003

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133691817_133691818del , CM000665.2:g.133691817_133691818del GRCh38
NC_000003.11:g.133410661_133410662del , CM000665.1:g.133410661_133410662del GRCh37
NC_000003.10:g.134893351_134893352del NCBI36
NG_013080.2:g.34820_34821del

Transcript Alleles

HGVS Amino-acid Change
ENST00000460564.5:n.209+3453_209+3454del (INHCAP)
ENST00000475455.1:n.268_269del (INHCAP)
ENST00000490470.5:n.209+3453_209+3454del (INHCAP)
ENST00000497521.5:n.208+3453_208+3454del (INHCAP)
XM_011513100.1:c.-1289+3453_-1289+3454del (TF) XP_011511402.1:n.-1289+3453_-1289+3454del
NM_001354703.1:c.-940+3453_-940+3454del (TF) NP_001341632.1:n.-940+3453_-940+3454del
NM_001354703.2:c.-940+3453_-940+3454del (TF) NP_001341632.2:n.-940+3453_-940+3454del