Linked Data
dbSNP Id:
rs1181437109
gnomAD v2:
9-37436554-CTCTT-C
gnomAD v3:
9-37436557-CTCTT-C
gnomAD v4:
9-37436557-CTCTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37436559_37436562del , CM000671.2:g.37436559_37436562del | GRCh38 |
| NC_000009.11:g.37436556_37436559del , CM000671.1:g.37436556_37436559del | GRCh37 |
| NC_000009.10:g.37426556_37426559del | NCBI36 |
| NG_008135.1:g.18850_18853del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318158.11:c.866-102_866-99del MANE Select | ENSP00000313432.6:n.866-102_866-99del | |
| ENST00000318158.10:c.866-102_866-99del | ENSP00000313432.6:n.866-102_866-99del | |
| ENST00000460882.5:n.893-102_893-99del | ||
| ENST00000480596.5:n.1567-102_1567-99del | ||
| ENST00000491488.5:n.571-102_571-99del | ||
| ENST00000494290.1:c.*52-322_*52-319del | ENSP00000432021.1:n.*52-322_*52-319del | |
| ENST00000497693.1:n.4434-102_4434-99del | ||
| NM_012203.1:c.866-102_866-99del | NP_036335.1:n.866-102_866-99del | |
| XM_005251631.1:c.545-102_545-99del | XP_005251688.1:n.545-102_545-99del | |
| XM_011518073.1:c.464-102_464-99del | XP_011516375.1:n.464-102_464-99del | |
| XM_017015320.2:c.946-852_946-849del | XP_016870809.1:n.946-852_946-849del | |
| XM_017015321.2:c.866-852_866-849del | XP_016870810.1:n.866-852_866-849del | |
| XM_017015323.2:c.544-852_544-849del | XP_016870812.1:n.544-852_544-849del | |
| XM_024447716.1:c.1219-852_1219-849del | XP_024303484.1:n.1219-852_1219-849del | |
| XM_024447717.1:c.1139-852_1139-849del | XP_024303485.1:n.1139-852_1139-849del | |
| XR_002956828.1:n.1234-852_1234-849del | ||
| XR_002956829.1:n.1154-852_1154-849del | ||
| XR_002956830.1:n.2286-102_2286-99del | ||
| XR_002956831.1:n.1961-102_1961-99del | ||
| XR_002956832.1:n.1285-102_1285-99del | ||
| NM_012203.2:c.866-102_866-99del MANE Select | NP_036335.1:n.866-102_866-99del |