Linked Data
dbSNP Id:
rs1160811871
gnomAD v2:
7-117251808-A-AACAT
MyVariant Identifiers:
chr7:g.117251808_117251809insACAT (hg19)
chr7:g.117611754_117611755insACAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117611754_117611755insACAT , CM000669.2:g.117611754_117611755insACAT | GRCh38 |
| NC_000007.13:g.117251808_117251809insACAT , CM000669.1:g.117251808_117251809insACAT | GRCh37 |
| NC_000007.12:g.117039044_117039045insACAT | NCBI36 |
| NG_016465.4:g.150971_150972insACAT , LRG_663:g.150971_150972insACAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3313_3314insACAT | ENSP00000497673.2:p.Met1105AsnfsTer? | |
| ENST00000647978.2:c.*3027_*3028insACAT | ENSP00000497658.1:n.*3027_*3028insACAT | |
| ENST00000649781.2:c.3130_3131insACAT | ENSP00000497203.1:p.Met1044AsnfsTer? | |
| ENST00000685018.2:c.3313_3314insACAT | ENSP00000510194.2:p.Met1105AsnfsTer? | |
| ENST00000687278.2:c.3313_3314insACAT | ENSP00000509593.2:p.Met1105AsnfsTer? | |
| ENST00000699585.1:c.3313_3314insACAT | ENSP00000514456.1:p.Met1105AsnfsTer? | |
| ENST00000699598.1:c.3313_3314insACAT | ENSP00000514467.1:p.Met1105AsnfsTer? | |
| ENST00000699599.1:c.3313_3314insACAT | ENSP00000514468.1:p.Met1105AsnfsTer? | |
| ENST00000699600.1:c.3313_3314insACAT | ENSP00000514469.1:p.Met1105AsnfsTer? | |
| ENST00000699601.1:c.*1613_*1614insACAT | ENSP00000514470.1:n.*1613_*1614insACAT | |
| ENST00000699602.1:c.3313_3314insACAT | ENSP00000514471.1:p.Met1105AsnfsTer? | |
| ENST00000699604.1:c.*3137_*3138insACAT | ENSP00000514472.1:n.*3137_*3138insACAT | |
| ENST00000699605.1:c.2887_2888insACAT | ENSP00000514473.1:p.Met963AsnfsTer? | |
| ENST00000685018.1:c.61_62insACAT | ENSP00000510194.1:p.Met21AsnfsTer? | |
| ENST00000687278.1:c.904_905insACAT | ENSP00000509593.1:p.Met302AsnfsTer? | |
| ENST00000003084.11:c.3313_3314insACAT MANE Select | ENSP00000003084.6:p.Met1105AsnfsTer? | |
| ENST00000647720.1:c.963_964insACAT | ||
| ENST00000648260.1:c.2095_2096insACAT | ENSP00000497957.1:p.Met699AsnfsTer? | |
| ENST00000649406.1:c.3130_3131insACAT | ENSP00000497965.1:p.Met1044AsnfsTer? | |
| ENST00000649781.1:c.3130_3131insACAT | ENSP00000497203.1:p.Met1044AsnfsTer? | |
| ENST00000003084.10:c.3313_3314insACAT | ENSP00000003084.6:p.Met1105AsnfsTer? | |
| ENST00000426809.5:c.3223_3224insACAT | ENSP00000389119.1:p.Met1075AsnfsTer? | |
| ENST00000468795.1:c.138_139insACAT | ||
| NM_000492.3:c.3313_3314insACAT , LRG_663t1:c.3313_3314insACAT | NP_000483.3:p.Met1105AsnfsTer? | |
| XM_011515751.1:c.3403_3404insACAT | XP_011514053.1:p.Met1135AsnfsTer? | |
| XM_011515752.1:c.3403_3404insACAT | XP_011514054.1:p.Met1135AsnfsTer? | |
| XM_011515753.1:c.3070_3071insACAT | XP_011514055.1:p.Met1024AsnfsTer? | |
| XM_011515754.1:c.3070_3071insACAT | XP_011514056.1:p.Met1024AsnfsTer? | |
| NM_000492.4:c.3313_3314insACAT MANE Select | NP_000483.3:p.Met1105AsnfsTer? |