Canonical Allele Identifier: CA2336431129

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41363689_41363700delinsCCATGAAAGCCT , CM000681.2:g.41363689_41363700delinsCCATGAAAGCCT GRCh38
NC_000019.9:g.41869594_41869605delinsCCATGAAAGCCT , CM000681.1:g.41869594_41869605delinsCCATGAAAGCCT GRCh37
NC_000019.8:g.46561434_46561445delinsCCATGAAAGCCT NCBI36
NG_013091.1:g.5474_5485delinsAGGCTTTCATGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000243578.8:c.-4-177_-4-166delinsAGGCTTTCATGG (B9D2) MANE Select ENSP00000243578.2:n.-4-177_-4-166delinsAGGCTTTCATGG
ENST00000675972.1:c.-5+64_-5+75delinsAGGCTTTCATGG (B9D2) ENSP00000501911.1:n.-5+64_-5+75delinsAGGCTTTCATGG
ENST00000243578.7:c.-4-177_-4-166delinsAGGCTTTCATGG (B9D2) ENSP00000243578.2:n.-4-177_-4-166delinsAGGCTTTCATGG
ENST00000539627.5:c.-30+12487_-30+12498delinsCCATGAAAGCCT (TMEM91) ENSP00000441900.1:n.-30+12487_-30+12498delinsCCATGAAAGCCT
ENST00000594416.1:c.-4-177_-4-166delinsAGGCTTTCATGG (B9D2) ENSP00000469666.1:n.-4-177_-4-166delinsAGGCTTTCATGG
ENST00000601597.1:n.136-177_136-166delinsAGGCTTTCATGG (B9D2)
ENST00000604123.5:c.142+9374_142+9385delinsCCATGAAAGCCT (TMEM91) ENSP00000474871.1:n.142+9374_142+9385delinsCCATGAAAGCCT
ENST00000604424.1:n.350+12487_350+12498delinsCCATGAAAGCCT
NM_030578.3:c.-4-177_-4-166delinsAGGCTTTCATGG (B9D2) NP_085055.2:n.-4-177_-4-166delinsAGGCTTTCATGG
XM_006723405.1:c.-4-177_-4-166delinsAGGCTTTCATGG (B9D2) XP_006723468.1:n.-4-177_-4-166delinsAGGCTTTCATGG
XM_011527349.1:c.-5+64_-5+75delinsAGGCTTTCATGG (B9D2) XP_011525651.1:n.-5+64_-5+75delinsAGGCTTTCATGG
XM_011527350.1:c.-72+258_-72+269delinsAGGCTTTCATGG (B9D2) XP_011525652.1:n.-72+258_-72+269delinsAGGCTTTCATGG
XM_011527349.2:c.-5+64_-5+75delinsAGGCTTTCATGG (B9D2) XP_011525651.1:n.-5+64_-5+75delinsAGGCTTTCATGG
XM_011527350.2:c.-72+258_-72+269delinsAGGCTTTCATGG (B9D2) XP_011525652.1:n.-72+258_-72+269delinsAGGCTTTCATGG
NM_030578.4:c.-4-177_-4-166delinsAGGCTTTCATGG (B9D2) MANE Select NP_085055.2:n.-4-177_-4-166delinsAGGCTTTCATGG