Canonical Allele Identifier: CA273638
Gene: ADGRV1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.90725555_90725558del , CM000667.2:g.90725555_90725558del GRCh38
NC_000005.9:g.90021372_90021375del , CM000667.1:g.90021372_90021375del GRCh37
NC_000005.8:g.90057128_90057131del NCBI36
NG_007083.1:g.171756_171759del
NG_007083.2:g.201212_201215del

Transcript Alleles

HGVS Amino-acid Change
ENST00000405460.9:c.10060_10063del MANE Select ENSP00000384582.2:p.Thr3354SerfsTer9
ENST00000639431.1:c.265+49346_265+49349del ENSP00000491057.1:n.265+49346_265+49349del
ENST00000640374.1:n.3204_3207del
ENST00000640464.1:n.479_482del
ENST00000405460.6:c.10060_10063del ENSP00000384582.2:p.Thr3354SerfsTer9
ENST00000509621.1:c.2757_2760del
NM_032119.3:c.10060_10063del NP_115495.3:p.Thr3354SerfsTer9
NR_003149.1:n.10073_10076del
XM_011543675.1:c.10057_10060del XP_011541977.1:p.Thr3353SerfsTer9
XM_011543676.1:c.9979_9982del XP_011541978.1:p.Thr3327SerfsTer9
XM_011543677.1:c.7363_7366del XP_011541979.1:p.Thr2455SerfsTer9
XM_011543678.1:c.10060_10063del XP_011541980.1:p.Thr3354SerfsTer9
XM_011543679.1:c.10060_10063del XP_011541981.1:p.Thr3354SerfsTer9
XR_948560.1:n.272-9745_272-9742del
NM_032119.4:c.10060_10063del MANE Select NP_115495.3:p.Thr3354SerfsTer9
XM_017009963.2:c.10081_10084del XP_016865452.1:p.Thr3361SerfsTer9
XM_017009964.2:c.10078_10081del XP_016865453.1:p.Thr3360SerfsTer9
XM_017009965.1:c.10078_10081del XP_016865454.1:p.Thr3360SerfsTer9
XM_017009966.2:c.10000_10003del XP_016865455.1:p.Thr3334SerfsTer9
XM_017009967.1:c.9985_9988del XP_016865456.1:p.Thr3329SerfsTer9
XM_017009968.2:c.10081_10084del XP_016865457.1:p.Thr3361SerfsTer9
XM_017009969.2:c.10081_10084del XP_016865458.1:p.Thr3361SerfsTer9
XM_017009970.2:c.10081_10084del XP_016865459.1:p.Thr3361SerfsTer9
XM_017009971.2:c.10081_10084del XP_016865460.1:p.Thr3361SerfsTer9
XM_017009972.1:c.3199_3202del XP_016865461.1:p.Thr1067SerfsTer9
XM_017009973.1:c.3178_3181del XP_016865462.1:p.Thr1060SerfsTer9
XM_017009974.2:c.10081_10084del XP_016865463.1:p.Thr3361SerfsTer9
XR_001742802.1:n.2523-9745_2523-9742del
NR_003149.2:n.10076_10079del