Canonical Allele Identifier: CA2585298986

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41354585del , CM000681.2:g.41354585del GRCh38
NC_000019.9:g.41860490del , CM000681.1:g.41860490del GRCh37
NC_000019.8:g.46552330del NCBI36
NG_013091.1:g.14590del
NG_013364.1:g.4343del

Transcript Alleles

HGVS Amino-acid Change
ENST00000243578.8:c.*116del (B9D2) MANE Select ENSP00000243578.2:n.*116del
ENST00000675972.1:c.*116del (B9D2) ENSP00000501911.1:n.*116del
ENST00000243578.7:c.*116del (B9D2) ENSP00000243578.2:n.*116del
ENST00000539627.5:c.-30+3383del (TMEM91) ENSP00000441900.1:n.-30+3383del
ENST00000604123.5:c.142+270del (TMEM91) ENSP00000474871.1:n.142+270del
ENST00000604424.1:n.350+3383del
NM_030578.3:c.*116del (B9D2) NP_085055.2:n.*116del
XM_006723405.1:c.*116del (B9D2) XP_006723468.1:n.*116del
XM_011527349.1:c.*116del (B9D2) XP_011525651.1:n.*116del
XM_011527350.1:c.*116del (B9D2) XP_011525652.1:n.*116del
XM_011527349.2:c.*116del (B9D2) XP_011525651.1:n.*116del
XM_011527350.2:c.*116del (B9D2) XP_011525652.1:n.*116del
NM_030578.4:c.*116del (B9D2) MANE Select NP_085055.2:n.*116del