Linked Data
dbSNP Id:
rs1175785520
gnomAD v2:
4-187115734-A-AAC
gnomAD v4:
4-186194580-A-AAC
MyVariant Identifiers:
chr4:g.187115734_187115735insAC (hg19)
chr4:g.186194580_186194581insAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186194580_186194581insAC , CM000666.2:g.186194580_186194581insAC | GRCh38 |
| NC_000004.11:g.187115734_187115735insAC , CM000666.1:g.187115734_187115735insAC | GRCh37 |
| NC_000004.10:g.187352728_187352729insAC | NCBI36 |
| NG_007965.1:g.8061_8062insAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.295_296insAC MANE Select | ENSP00000368079.4:p.Met99AsnfsTer13 | |
| ENST00000378802.4:c.295_296insAC | ENSP00000368079.4:p.Met99AsnfsTer13 | |
| NM_207352.3:c.295_296insAC | NP_997235.3:p.Met99AsnfsTer13 | |
| XM_005262935.2:c.295_296insAC | XP_005262992.1:p.Met99AsnfsTer13 | |
| XM_006714184.2:c.-16_-15insAC | XP_006714247.1:n.-16_-15insAC | |
| XM_005262935.4:c.295_296insAC | XP_005262992.1:p.Met99AsnfsTer13 | |
| XM_017008037.1:c.-16_-15insAC | XP_016863526.1:n.-16_-15insAC | |
| NM_207352.4:c.295_296insAC MANE Select | NP_997235.3:p.Met99AsnfsTer13 |