Canonical Allele Identifier: CA1562577
Community Standard Title: NM_145038.5(DRC1):c.2190_2193dup (p.Thr732SerfsTer18)
Gene: DRC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26456484_26456487dup , CM000664.2:g.26456484_26456487dup GRCh38
NC_000002.11:g.26679352_26679355dup , CM000664.1:g.26679352_26679355dup GRCh37
NC_000002.10:g.26532856_26532859dup NCBI36
NG_009937.1:g.107214_107217dup
NG_042824.1:g.59573_59576dup

Transcript Alleles

HGVS Amino-acid Change
NM_145038.5:c.2190_2193dup MANE Select NP_659475.2:p.Thr732SerfsTer18
ENST00000288710.7:c.2190_2193dup MANE Select ENSP00000288710.2:p.Thr732SerfsTer18
NM_145038.3:c.2190_2193dup NP_659475.2:p.Thr732SerfsTer18
NM_145038.4:c.2190_2193dup NP_659475.2:p.Thr732SerfsTer18
ENST00000288710.6:c.2190_2193dup ENSP00000288710.2:p.Thr732SerfsTer18
ENST00000649059.1:c.2036_2039dup
XM_005264637.3:c.1572_1575dup XP_005264694.1:p.Thr526SerfsTer18
XM_005264638.3:c.1170_1173dup XP_005264695.1:p.Thr392SerfsTer18
XM_017005271.1:c.1170_1173dup XP_016860760.1:p.Thr392SerfsTer18
XM_024453218.1:c.1170_1173dup XP_024308986.1:p.Thr392SerfsTer18