Canonical Allele Identifier: CA2576793355
Gene: TGFB1 HGNC NCBI
TMEM91 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41353114_41353115insAGCCCC , CM000681.2:g.41353114_41353115insAGCCCC GRCh38
NC_000019.9:g.41859019_41859020insAGCCCC , CM000681.1:g.41859019_41859020insAGCCCC GRCh37
NC_000019.8:g.46550859_46550860insAGCCCC NCBI36
NG_013091.1:g.16064_16065insTGGGGC
NG_013364.1:g.5817_5818insTGGGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000221930.6:c.-66_-65insTGGGGC (TGFB1) MANE Select ENSP00000221930.4:n.-66_-65insTGGGGC
ENST00000221930.5:c.-66_-65insTGGGGC (TGFB1) ENSP00000221930.4:n.-66_-65insTGGGGC
ENST00000539627.5:c.-30+1912_-30+1913insAGCCCC (TMEM91) ENSP00000441900.1:n.-30+1912_-30+1913insAGCCCC
ENST00000604424.1:n.350+1912_350+1913insAGCCCC
NM_000660.5:c.-66_-65insTGGGGC (TGFB1) NP_000651.3:n.-66_-65insTGGGGC
XM_011527242.1:c.-66_-65insTGGGGC (TGFB1) XP_011525544.1:n.-66_-65insTGGGGC
NM_000660.6:c.-66_-65insTGGGGC (TGFB1) NP_000651.3:n.-66_-65insTGGGGC
XM_011527242.2:c.-66_-65insTGGGGC (TGFB1) XP_011525544.1:n.-66_-65insTGGGGC
NM_000660.7:c.-66_-65insTGGGGC (TGFB1) MANE Select NP_000651.3:n.-66_-65insTGGGGC