Linked Data
dbSNP Id:
rs1201642007
gnomAD v3:
6-33165163-TCACGTGA-T
gnomAD v4:
6-33165163-TCACGTGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33165167_33165173del , CM000668.2:g.33165167_33165173del | GRCh38 |
| NC_000006.11:g.33132944_33132950del , CM000668.1:g.33132944_33132950del | GRCh37 |
| NC_000006.10:g.33240922_33240928del | NCBI36 |
| NG_011589.1:g.32299_32305del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.557-206_557-200del | ||
| ENST00000341947.7:c.4751-206_4751-200del MANE Select | ENSP00000339915.2:n.4751-206_4751-200del | |
| ENST00000341947.6:c.4751-206_4751-200del | ENSP00000339915.2:n.4751-206_4751-200del | |
| ENST00000361917.5:c.4430-206_4430-200del | ENSP00000355123.1:n.4430-206_4430-200del | |
| ENST00000374708.8:c.4493-206_4493-200del | ENSP00000363840.4:n.4493-206_4493-200del | |
| ENST00000477772.1:n.541-206_541-200del | ||
| NM_080679.2:c.4430-206_4430-200del | NP_542410.2:n.4430-206_4430-200del | |
| NM_080680.2:c.4751-206_4751-200del | NP_542411.2:n.4751-206_4751-200del | |
| NM_080681.2:c.4493-206_4493-200del | NP_542412.2:n.4493-206_4493-200del | |
| XM_011514298.1:c.3905-206_3905-200del | XP_011512600.1:n.3905-206_3905-200del | |
| XM_011514299.1:c.4037-206_4037-200del | XP_011512601.1:n.4037-206_4037-200del | |
| XM_011514300.1:c.3857-206_3857-200del | XP_011512602.1:n.3857-206_3857-200del | |
| XM_011514301.1:c.3794-206_3794-200del | XP_011512603.1:n.3794-206_3794-200del | |
| XM_011514302.1:c.3638-206_3638-200del | XP_011512604.1:n.3638-206_3638-200del | |
| XM_011514299.2:c.4037-206_4037-200del | XP_011512601.1:n.4037-206_4037-200del | |
| XM_011514300.2:c.3857-206_3857-200del | XP_011512602.1:n.3857-206_3857-200del | |
| XM_011514302.2:c.3638-206_3638-200del | XP_011512604.1:n.3638-206_3638-200del | |
| XM_017010250.1:c.4751-206_4751-200del | XP_016865739.1:n.4751-206_4751-200del | |
| XM_017010251.2:c.3569-206_3569-200del | XP_016865740.1:n.3569-206_3569-200del | |
| NM_080680.3:c.4751-206_4751-200del MANE Select | NP_542411.2:n.4751-206_4751-200del | |
| NM_080681.3:c.4493-206_4493-200del | NP_542412.2:n.4493-206_4493-200del | |
| NM_080679.3:c.4430-206_4430-200del | NP_542410.2:n.4430-206_4430-200del |