Canonical Allele Identifier: CA2814427000
Gene: TGFB1 HGNC NCBI
TMEM91 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41352643_41352667dup , CM000681.2:g.41352643_41352667dup GRCh38
NC_000019.9:g.41858548_41858572dup , CM000681.1:g.41858548_41858572dup GRCh37
NC_000019.8:g.46550388_46550412dup NCBI36
NG_013091.1:g.16512_16536dup
NG_013364.1:g.6265_6289dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000221930.6:c.355+28_355+52dup (TGFB1) MANE Select ENSP00000221930.4:n.355+28_355+52dup
ENST00000600196.2:c.355+28_355+52dup (TGFB1) ENSP00000504008.1:n.355+28_355+52dup
ENST00000677934.1:c.355+28_355+52dup (TGFB1) ENSP00000504769.1:n.355+28_355+52dup
ENST00000221930.5:c.355+28_355+52dup (TGFB1) ENSP00000221930.4:n.355+28_355+52dup
ENST00000539627.5:c.-30+1441_-30+1465dup (TMEM91) ENSP00000441900.1:n.-30+1441_-30+1465dup
ENST00000604424.1:n.350+1441_350+1465dup
NM_000660.5:c.355+28_355+52dup (TGFB1) NP_000651.3:n.355+28_355+52dup
XM_011527242.1:c.355+28_355+52dup (TGFB1) XP_011525544.1:n.355+28_355+52dup
NM_000660.6:c.355+28_355+52dup (TGFB1) NP_000651.3:n.355+28_355+52dup
XM_011527242.2:c.355+28_355+52dup (TGFB1) XP_011525544.1:n.355+28_355+52dup
NM_000660.7:c.355+28_355+52dup (TGFB1) MANE Select NP_000651.3:n.355+28_355+52dup