Linked Data
dbSNP Id:
rs1197280165
gnomAD v3:
X-137567774-C-CGTG
gnomAD v4:
X-137567774-C-CGTG
MyVariant Identifiers:
chrX:g.136649933_136649934insGTG (hg19)
chrX:g.137567774_137567775insGTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.137567776_137567778dup , CM000685.2:g.137567776_137567778dup | GRCh38 |
| NC_000023.10:g.136649935_136649937dup , CM000685.1:g.136649935_136649937dup | GRCh37 |
| NC_000023.9:g.136477601_136477603dup | NCBI36 |
| NG_008115.1:g.6590_6592dup | |
| NG_008115.2:g.6650_6652dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287538.10:c.1060+25_1060+27dup MANE Select | ENSP00000287538.5:n.1060+25_1060+27dup | |
| ENST00000287538.9:c.1060+25_1060+27dup | ENSP00000287538.5:n.1060+25_1060+27dup | |
| ENST00000370606.3:c.1060+25_1060+27dup | ENSP00000359638.3:n.1060+25_1060+27dup | |
| NM_003413.3:c.1060+25_1060+27dup | NP_003404.1:n.1060+25_1060+27dup | |
| NM_001330661.1:c.1060+25_1060+27dup | NP_001317590.1:n.1060+25_1060+27dup | |
| NM_003413.4:c.1060+25_1060+27dup MANE Select | NP_003404.1:n.1060+25_1060+27dup |