Canonical Allele Identifier: CA2336426214
Gene: TGFB1 HGNC NCBI
TMEM91 HGNC NCBI

Linked Data

dbSNP Id: rs281865483

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41353010_41353015dup , CM000681.2:g.41353010_41353015dup GRCh38
NC_000019.9:g.41858915_41858920dup , CM000681.1:g.41858915_41858920dup GRCh37
NC_000019.8:g.46550755_46550760dup NCBI36
NG_013091.1:g.16162_16167dup
NG_013364.1:g.5915_5920dup

Transcript Alleles

HGVS Amino-acid change
ENST00000221930.6:c.33_38dup (TGFB1) MANE Select ENSP00000221930.4:p.Leu13_Pro14insLeuLeu
ENST00000600196.2:c.33_38dup (TGFB1) ENSP00000504008.1:p.Leu13_Pro14insLeuLeu
ENST00000677934.1:c.33_38dup (TGFB1) ENSP00000504769.1:p.Leu13_Pro14insLeuLeu
ENST00000221930.5:c.33_38dup (TGFB1) ENSP00000221930.4:p.Leu13_Pro14insLeuLeu
ENST00000539627.5:c.-30+1808_-30+1813dup (TMEM91) ENSP00000441900.1:n.-30+1808_-30+1813dup
ENST00000604424.1:n.350+1808_350+1813dup
NM_000660.5:c.33_38dup (TGFB1) NP_000651.3:p.Leu13_Pro14insLeuLeu
XM_011527242.1:c.33_38dup (TGFB1) XP_011525544.1:p.Leu13_Pro14insLeuLeu
NM_000660.6:c.33_38dup (TGFB1) NP_000651.3:p.Leu13_Pro14insLeuLeu
XM_011527242.2:c.33_38dup (TGFB1) XP_011525544.1:p.Leu13_Pro14insLeuLeu
NM_000660.7:c.33_38dup (TGFB1) MANE Select NP_000651.3:p.Leu13_Pro14insLeuLeu