Canonical Allele Identifier: CA2403722516
Gene:

Linked Data

dbSNP Id: rs2059867966

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36129881del , CM000684.2:g.36129881del GRCh38
NC_000022.10:g.36525929del , CM000684.1:g.36525929del GRCh37
NC_000022.9:g.34855875del NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_430441.2:n.1547+3283del
XR_938219.1:n.3057del
XR_938220.1:n.3057del
XR_938221.1:n.1471+3983del
XR_001755516.2:n.4919del
XR_001755517.2:n.3146del
XR_001755518.2:n.4919del
XR_001755519.2:n.4919del
XR_001755520.2:n.4919del
XR_001755521.2:n.4919del
XR_001755522.2:n.1637-2106del
XR_001755525.2:n.1637-525del
XR_001755526.2:n.1637-2106del
XR_430441.4:n.1636+3283del