Linked Data
gnomAD v2:
4-187209240-T-TTA
gnomAD v3:
4-186288086-T-TTA
gnomAD v4:
4-186288086-T-TTA
MyVariant Identifiers:
chr4:g.187209240_187209241insTA (hg19)
chr4:g.186288086_186288087insTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186288087_186288088dup , CM000666.2:g.186288087_186288088dup | GRCh38 |
| NC_000004.11:g.187209241_187209242dup , CM000666.1:g.187209241_187209242dup | GRCh37 |
| NC_000004.10:g.187446235_187446236dup | NCBI36 |
| NG_008051.1:g.27124_27125dup , LRG_583:g.27124_27125dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1716+264_1716+265dup (F11) MANE Select | ENSP00000384957.2:n.1716+264_1716+265dup | |
| ENST00000264691.4:c.316+264_316+265dup (F11) | ||
| ENST00000264692.8:c.1554+264_1554+265dup (F11) | ENSP00000264692.5:n.1554+264_1554+265dup | |
| ENST00000403665.6:c.1716+264_1716+265dup (F11) | ENSP00000384957.2:n.1716+264_1716+265dup | |
| ENST00000503841.1:n.235+264_235+265dup (F11) | ||
| NM_000128.3:c.1716+264_1716+265dup , LRG_583t1:c.1716+264_1716+265dup (F11) | NP_000119.1:n.1716+264_1716+265dup | |
| NR_033900.1:n.1066+340_1066+341dup (F11-AS1) | ||
| XM_005262821.2:c.1719+264_1719+265dup (F11) | XP_005262878.1:n.1719+264_1719+265dup | |
| XM_005262822.2:c.1623+264_1623+265dup (F11) | XP_005262879.1:n.1623+264_1623+265dup | |
| XM_005262823.2:c.1449+264_1449+265dup (F11) | XP_005262880.1:n.1449+264_1449+265dup | |
| XM_006714137.1:c.1671+264_1671+265dup (F11) | XP_006714200.1:n.1671+264_1671+265dup | |
| XM_005262821.4:c.1719+264_1719+265dup (F11) | XP_005262878.1:n.1719+264_1719+265dup | |
| XM_005262822.4:c.1623+264_1623+265dup (F11) | XP_005262879.1:n.1623+264_1623+265dup | |
| XM_005262823.4:c.1449+264_1449+265dup (F11) | XP_005262880.1:n.1449+264_1449+265dup | |
| XM_006714137.3:c.1671+264_1671+265dup (F11) | XP_006714200.1:n.1671+264_1671+265dup | |
| NM_000128.4:c.1716+264_1716+265dup (F11) MANE Select | NP_000119.1:n.1716+264_1716+265dup |