Canonical Allele Identifier: CA2336431395

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41364024_41364027delinsGCTT , CM000681.2:g.41364024_41364027delinsGCTT GRCh38
NC_000019.9:g.41869929_41869932delinsGCTT , CM000681.1:g.41869929_41869932delinsGCTT GRCh37
NC_000019.8:g.46561769_46561772delinsGCTT NCBI36
NG_013091.1:g.5147_5150delinsAAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000243578.8:c.-74_-71delinsAAGC (B9D2) MANE Select ENSP00000243578.2:n.-74_-71delinsAAGC
ENST00000243578.7:c.-74_-71delinsAAGC (B9D2) ENSP00000243578.2:n.-74_-71delinsAAGC
ENST00000539627.5:c.-30+12822_-30+12825delinsGCTT (TMEM91) ENSP00000441900.1:n.-30+12822_-30+12825delinsGCTT
ENST00000594416.1:c.-74_-71delinsAAGC (B9D2) ENSP00000469666.1:n.-74_-71delinsAAGC
ENST00000601597.1:n.66_69delinsAAGC (B9D2)
ENST00000604123.5:c.142+9709_142+9712delinsGCTT (TMEM91) ENSP00000474871.1:n.142+9709_142+9712delinsGCTT
ENST00000604424.1:n.350+12822_350+12825delinsGCTT
NM_001098825.1:c.-101_-98delinsGCTT (TMEM91) NP_001092295.1:n.-101_-98delinsGCTT
NM_030578.3:c.-74_-71delinsAAGC (B9D2) NP_085055.2:n.-74_-71delinsAAGC
XM_006723405.1:c.-74_-71delinsAAGC (B9D2) XP_006723468.1:n.-74_-71delinsAAGC
XM_011527350.1:c.-141_-138delinsAAGC (B9D2) XP_011525652.1:n.-141_-138delinsAAGC
XM_011527350.2:c.-141_-138delinsAAGC (B9D2) XP_011525652.1:n.-141_-138delinsAAGC
NM_030578.4:c.-74_-71delinsAAGC (B9D2) MANE Select NP_085055.2:n.-74_-71delinsAAGC
NM_001369864.1:c.-358_-355delinsGCTT (TMEM91) NP_001356793.1:n.-358_-355delinsGCTT
NM_001098825.2:c.-101_-98delinsGCTT (TMEM91) NP_001092295.1:n.-101_-98delinsGCTT