Linked Data
dbSNP Id:
rs1400187092
gnomAD v2:
6-160560905-TTGG-T
gnomAD v3:
6-160139873-TTGG-T
gnomAD v4:
6-160139873-TTGG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160139875_160139877del , CM000668.2:g.160139875_160139877del | GRCh38 |
| NC_000006.11:g.160560907_160560909del , CM000668.1:g.160560907_160560909del | GRCh37 |
| NC_000006.10:g.160480897_160480899del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366963.9:c.1276+8_1276+10del MANE Select | ENSP00000355930.4:n.1276+8_1276+10del | |
| ENST00000324965.8:c.1276+8_1276+10del | ENSP00000318103.4:n.1276+8_1276+10del | |
| ENST00000366963.8:c.1276+8_1276+10del | ENSP00000355930.4:n.1276+8_1276+10del | |
| ENST00000457470.6:c.1276+8_1276+10del | ENSP00000409557.2:n.1276+8_1276+10del | |
| ENST00000460902.2:c.1061+3225_1061+3227del | ENSP00000439274.1:n.1061+3225_1061+3227del | |
| ENST00000539263.5:c.*749+8_*749+10del | ENSP00000443245.1:n.*749+8_*749+10del | |
| NM_003057.2:c.1276+8_1276+10del | NP_003048.1:n.1276+8_1276+10del | |
| NM_153187.1:c.1276+8_1276+10del | NP_694857.1:n.1276+8_1276+10del | |
| XM_005267102.3:c.1276+8_1276+10del | XP_005267159.1:n.1276+8_1276+10del | |
| XM_005267103.1:c.1276+8_1276+10del | XP_005267160.1:n.1276+8_1276+10del | |
| XM_005267104.3:c.700+8_700+10del | XP_005267161.1:n.700+8_700+10del | |
| XM_005267105.3:c.700+8_700+10del | XP_005267162.1:n.700+8_700+10del | |
| XM_006715552.1:c.1276+8_1276+10del | XP_006715615.1:n.1276+8_1276+10del | |
| XM_011536074.1:c.700+8_700+10del | XP_011534376.1:n.700+8_700+10del | |
| XM_005267102.5:c.1276+8_1276+10del | XP_005267159.1:n.1276+8_1276+10del | |
| XM_005267103.2:c.1276+8_1276+10del | XP_005267160.1:n.1276+8_1276+10del | |
| XM_005267104.5:c.700+8_700+10del | XP_005267161.1:n.700+8_700+10del | |
| XM_005267105.5:c.700+8_700+10del | XP_005267162.1:n.700+8_700+10del | |
| XM_006715552.2:c.1276+8_1276+10del | XP_006715615.1:n.1276+8_1276+10del | |
| XM_011536074.3:c.700+8_700+10del | XP_011534376.1:n.700+8_700+10del | |
| NM_003057.3:c.1276+8_1276+10del MANE Select | NP_003048.1:n.1276+8_1276+10del | |
| NM_153187.2:c.1276+8_1276+10del | NP_694857.1:n.1276+8_1276+10del |