Canonical Allele Identifier: CA2697556604
Gene: TGFB1 HGNC NCBI
TMEM91 HGNC NCBI

Linked Data

ClinVar Variation Id: 2743373
ClinVar RCV Id: RCV003560359
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41353016_41353017delinsAA , CM000681.2:g.41353016_41353017delinsAA GRCh38
NC_000019.9:g.41858921_41858922delinsAA , CM000681.1:g.41858921_41858922delinsAA GRCh37
NC_000019.8:g.46550761_46550762delinsAA NCBI36
NG_013091.1:g.16157_16158delinsTT
NG_013364.1:g.5910_5911delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000221930.6:c.28_29delinsTT (TGFB1) MANE Select ENSP00000221930.4:p.Pro10Leu
ENST00000600196.2:c.28_29delinsTT (TGFB1) ENSP00000504008.1:p.Pro10Leu
ENST00000677934.1:c.28_29delinsTT (TGFB1) ENSP00000504769.1:p.Pro10Leu
ENST00000221930.5:c.28_29delinsTT (TGFB1) ENSP00000221930.4:p.Pro10Leu
ENST00000539627.5:c.-30+1814_-30+1815delinsAA (TMEM91) ENSP00000441900.1:n.-30+1814_-30+1815delinsAA
ENST00000604424.1:n.350+1814_350+1815delinsAA
NM_000660.5:c.28_29delinsTT (TGFB1) NP_000651.3:p.Pro10Leu
XM_011527242.1:c.28_29delinsTT (TGFB1) XP_011525544.1:p.Pro10Leu
NM_000660.6:c.28_29delinsTT (TGFB1) NP_000651.3:p.Pro10Leu
XM_011527242.2:c.28_29delinsTT (TGFB1) XP_011525544.1:p.Pro10Leu
NM_000660.7:c.28_29delinsTT (TGFB1) MANE Select NP_000651.3:p.Pro10Leu
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