Canonical Allele Identifier: CA2697556602
Community Standard Title: NM_000660.7(TGFB1):c.38_39insGCTGCTGCTGCT (p.Leu13_Pro14insLeuLeuLeuLeu)
Gene: TGFB1 HGNC NCBI
TMEM91 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41353015_41353016insAGCAGCAGCAGC , CM000681.2:g.41353015_41353016insAGCAGCAGCAGC GRCh38
NC_000019.9:g.41858920_41858921insAGCAGCAGCAGC , CM000681.1:g.41858920_41858921insAGCAGCAGCAGC GRCh37
NC_000019.8:g.46550760_46550761insAGCAGCAGCAGC NCBI36
NG_013091.1:g.16167_16168insGCTGCTGCTGCT
NG_013364.1:g.5920_5921insGCTGCTGCTGCT

Transcript Alleles

HGVS Amino-acid Change
NM_000660.7:c.38_39insGCTGCTGCTGCT (TGFB1) MANE Select NP_000651.3:p.Leu13_Pro14insLeuLeuLeuLeu
ENST00000221930.6:c.38_39insGCTGCTGCTGCT (TGFB1) MANE Select ENSP00000221930.4:p.Leu13_Pro14insLeuLeuLeuLeu
NM_000660.5:c.38_39insGCTGCTGCTGCT (TGFB1) NP_000651.3:p.Leu13_Pro14insLeuLeuLeuLeu
NM_000660.6:c.38_39insGCTGCTGCTGCT (TGFB1) NP_000651.3:p.Leu13_Pro14insLeuLeuLeuLeu
ENST00000221930.5:c.38_39insGCTGCTGCTGCT (TGFB1) ENSP00000221930.4:p.Leu13_Pro14insLeuLeuLeuLeu
ENST00000539627.5:c.-30+1813_-30+1814insAGCAGCAGCAGC (TMEM91) ENSP00000441900.1:n.-30+1813_-30+1814insAGCAGCAGCAGC
ENST00000600196.2:c.38_39insGCTGCTGCTGCT (TGFB1) ENSP00000504008.1:p.Leu13_Pro14insLeuLeuLeuLeu
ENST00000604424.1:n.350+1813_350+1814insAGCAGCAGCAGC
ENST00000677934.1:c.38_39insGCTGCTGCTGCT (TGFB1) ENSP00000504769.1:p.Leu13_Pro14insLeuLeuLeuLeu
XM_011527242.1:c.38_39insGCTGCTGCTGCT (TGFB1) XP_011525544.1:p.Leu13_Pro14insLeuLeuLeuLeu
XM_011527242.2:c.38_39insGCTGCTGCTGCT (TGFB1) XP_011525544.1:p.Leu13_Pro14insLeuLeuLeuLeu