Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.58968480_58968481delinsAT , CM000670.2:g.58968480_58968481delinsAT | GRCh38 |
| NC_000008.10:g.59881039_59881040delinsAT , CM000670.1:g.59881039_59881040delinsAT | GRCh37 |
| NC_000008.9:g.60043593_60043594delinsAT | NCBI36 |
| NG_011993.1:g.155728_155729delinsAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361421.2:c.103-8473_103-8472delinsAT MANE Select | ENSP00000354842.1:n.103-8473_103-8472delinsAT | |
| ENST00000361421.1:c.103-8473_103-8472delinsAT | ENSP00000354842.1:n.103-8473_103-8472delinsAT | |
| NM_014729.2:c.103-8473_103-8472delinsAT | NP_055544.1:n.103-8473_103-8472delinsAT | |
| XM_017014085.1:c.103-28937_103-28936delinsAT | XP_016869574.1:n.103-28937_103-28936delinsAT | |
| NM_014729.3:c.103-8473_103-8472delinsAT MANE Select | NP_055544.1:n.103-8473_103-8472delinsAT |