Linked Data
dbSNP Id:
rs1044236372
gnomAD v3:
10-61992114-C-CATA
gnomAD v4:
10-61992114-C-CATA
MyVariant Identifiers:
chr10:g.63751873_63751874insATA (hg19)
chr10:g.61992114_61992115insATA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.61992115_61992117dup , CM000672.2:g.61992115_61992117dup | GRCh38 |
| NC_000010.10:g.63751874_63751876dup , CM000672.1:g.63751874_63751876dup | GRCh37 |
| NC_000010.9:g.63421880_63421882dup | NCBI36 |
| NG_030027.1:g.95862_95864dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279873.12:c.503-7976_503-7974dup MANE Select | ENSP00000279873.7:n.503-7976_503-7974dup | |
| ENST00000644638.1:c.503-7976_503-7974dup | ENSP00000494412.1:n.503-7976_503-7974dup | |
| ENST00000681100.1:c.503-7976_503-7974dup | ENSP00000506119.1:n.503-7976_503-7974dup | |
| ENST00000279873.11:c.503-7976_503-7974dup | ENSP00000279873.7:n.503-7976_503-7974dup | |
| NM_032199.2:c.503-7976_503-7974dup | NP_115575.1:n.503-7976_503-7974dup | |
| XM_011540262.1:c.502+51707_502+51709dup | XP_011538564.1:n.502+51707_502+51709dup | |
| XM_024448230.1:c.-65-7976_-65-7974dup | XP_024303998.1:n.-65-7976_-65-7974dup | |
| NM_032199.3:c.503-7976_503-7974dup MANE Select | NP_115575.1:n.503-7976_503-7974dup |