Canonical Allele Identifier: CA2714049183
Gene:

Linked Data

dbSNP Id: rs2128234358

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.24291910del , CM000669.2:g.24291910del GRCh38
NC_000007.13:g.24331529del , CM000669.1:g.24331529del GRCh37
NC_000007.12:g.24298054del NCBI36
NG_016148.1:g.12723del

Transcript Alleles

HGVS Amino-acid Change
XM_017012910.1:c.41+27450del XP_016868399.1:n.41+27450del
XM_017012911.1:c.41+27450del XP_016868400.1:n.41+27450del
XR_001745121.1:n.473+27450del
XR_001745122.1:n.345-94878del
XR_001745123.1:n.473+27450del
XR_001745124.1:n.473+27450del
XR_001745125.1:n.473+27450del
XR_001745126.1:n.473+27450del
XR_001745127.1:n.345-36208del
XR_001745129.1:n.473+27450del
XR_001745130.1:n.473+27450del
XR_001745131.1:n.473+27450del
XR_001745132.1:n.473+27450del