Linked Data
dbSNP Id:
rs778060851
gnomAD v3:
13-46837807-A-ATCTT
gnomAD v4:
13-46837807-A-ATCTT
MyVariant Identifiers:
chr13:g.47411942_47411943insTCTT (hg19)
chr13:g.46837807_46837808insTCTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.46837812_46837815dup , CM000675.2:g.46837812_46837815dup | GRCh38 |
| NC_000013.10:g.47411947_47411950dup , CM000675.1:g.47411947_47411950dup | GRCh37 |
| NC_000013.9:g.46309948_46309951dup | NCBI36 |
| NG_013011.1:g.64224_64227dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000542664.4:c.614-2172_614-2169dup MANE Select | ENSP00000437737.1:n.614-2172_614-2169dup | |
| ENST00000543956.5:c.125-2172_125-2169dup | ENSP00000441861.2:n.125-2172_125-2169dup | |
| ENST00000378688.8:c.614-2172_614-2169dup | ENSP00000367959.3:n.614-2172_614-2169dup | |
| ENST00000542664.3:c.614-2172_614-2169dup | ENSP00000437737.1:n.614-2172_614-2169dup | |
| ENST00000543956.4:c.362-2172_362-2169dup | ENSP00000441861.1:n.362-2172_362-2169dup | |
| NM_000621.4:c.614-2172_614-2169dup | NP_000612.1:n.614-2172_614-2169dup | |
| NM_001165947.2:c.362-2172_362-2169dup | NP_001159419.1:n.362-2172_362-2169dup | |
| NM_000621.5:c.614-2172_614-2169dup MANE Select | NP_000612.1:n.614-2172_614-2169dup | |
| NM_001165947.5:c.125-2172_125-2169dup | NP_001159419.2:n.125-2172_125-2169dup | |
| NM_001378924.1:c.614-2172_614-2169dup | NP_001365853.1:n.614-2172_614-2169dup |