Canonical Allele Identifier: CA2336426219
Gene: TGFB1 HGNC NCBI
TMEM91 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41353010_41353016delinsAGCAGCG , CM000681.2:g.41353010_41353016delinsAGCAGCG GRCh38
NC_000019.9:g.41858915_41858921delinsAGCAGCG , CM000681.1:g.41858915_41858921delinsAGCAGCG GRCh37
NC_000019.8:g.46550755_46550761delinsAGCAGCG NCBI36
NG_013091.1:g.16158_16164delinsCGCTGCT
NG_013364.1:g.5911_5917delinsCGCTGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000221930.6:c.29_35delinsCGCTGCT (TGFB1) MANE Select ENSP00000221930.4:p.Pro10=
ENST00000600196.2:c.29_35delinsCGCTGCT (TGFB1) ENSP00000504008.1:p.Pro10=
ENST00000677934.1:c.29_35delinsCGCTGCT (TGFB1) ENSP00000504769.1:p.Pro10=
ENST00000221930.5:c.29_35delinsCGCTGCT (TGFB1) ENSP00000221930.4:p.Pro10=
ENST00000539627.5:c.-30+1808_-30+1814delinsAGCAGCG (TMEM91) ENSP00000441900.1:n.-30+1808_-30+1814delinsAGCAGCG
ENST00000604424.1:n.350+1808_350+1814delinsAGCAGCG
NM_000660.5:c.29_35delinsCGCTGCT (TGFB1) NP_000651.3:p.Pro10=
XM_011527242.1:c.29_35delinsCGCTGCT (TGFB1) XP_011525544.1:p.Pro10=
NM_000660.6:c.29_35delinsCGCTGCT (TGFB1) NP_000651.3:p.Pro10=
XM_011527242.2:c.29_35delinsCGCTGCT (TGFB1) XP_011525544.1:p.Pro10=
NM_000660.7:c.29_35delinsCGCTGCT (TGFB1) MANE Select NP_000651.3:p.Pro10=