Canonical Allele Identifier: CA1867260459
Gene: TGFBR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99142902_99142903delinsAC , CM000671.2:g.99142902_99142903delinsAC GRCh38
NC_000009.11:g.101905184_101905185delinsAC , CM000671.1:g.101905184_101905185delinsAC GRCh37
NC_000009.10:g.100945005_100945006delinsAC NCBI36
NG_007461.1:g.42773_42774delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000547314.6:c.766+199_766+200delinsAC ENSP00000449934.2:n.766+199_766+200delinsAC
ENST00000552573.7:c.778+199_778+200delinsAC ENSP00000447182.3:n.778+199_778+200delinsAC
ENST00000548365.6:c.547+199_547+200delinsAC ENSP00000448518.2:n.547+199_547+200delinsAC
ENST00000549021.6:c.535+199_535+200delinsAC ENSP00000449028.2:n.535+199_535+200delinsAC
ENST00000698941.1:c.778+199_778+200delinsAC ENSP00000514048.1:n.778+199_778+200delinsAC
ENST00000698942.1:c.*769+199_*769+200delinsAC ENSP00000514049.1:n.*769+199_*769+200delinsAC
ENST00000374994.9:c.973+199_973+200delinsAC MANE Select ENSP00000364133.4:n.973+199_973+200delinsAC
ENST00000374990.6:c.742+199_742+200delinsAC ENSP00000364129.2:n.742+199_742+200delinsAC
ENST00000374994.8:c.973+199_973+200delinsAC ENSP00000364133.4:n.973+199_973+200delinsAC
ENST00000549766.5:c.985+199_985+200delinsAC ENSP00000446685.1:n.985+199_985+200delinsAC
ENST00000550253.1:c.766+199_766+200delinsAC ENSP00000450052.1:n.766+199_766+200delinsAC
ENST00000552516.5:c.985+199_985+200delinsAC ENSP00000447297.1:n.985+199_985+200delinsAC
NM_001130916.1:c.742+199_742+200delinsAC NP_001124388.1:n.742+199_742+200delinsAC
NM_001130916.2:c.742+199_742+200delinsAC NP_001124388.1:n.742+199_742+200delinsAC
NM_001306210.1:c.985+199_985+200delinsAC NP_001293139.1:n.985+199_985+200delinsAC
NM_004612.2:c.973+199_973+200delinsAC NP_004603.1:n.973+199_973+200delinsAC
NM_004612.3:c.973+199_973+200delinsAC NP_004603.1:n.973+199_973+200delinsAC
XM_011518948.1:c.778+199_778+200delinsAC XP_011517250.1:n.778+199_778+200delinsAC
XM_011518949.1:c.766+199_766+200delinsAC XP_011517251.1:n.766+199_766+200delinsAC
XM_011518950.1:c.535+199_535+200delinsAC XP_011517252.1:n.535+199_535+200delinsAC
XM_011518948.2:c.778+199_778+200delinsAC XP_011517250.1:n.778+199_778+200delinsAC
XM_011518949.2:c.766+199_766+200delinsAC XP_011517251.1:n.766+199_766+200delinsAC
XM_011518950.2:c.535+199_535+200delinsAC XP_011517252.1:n.535+199_535+200delinsAC
XM_017015063.1:c.778+199_778+200delinsAC XP_016870552.1:n.778+199_778+200delinsAC
XM_024447658.1:c.766+199_766+200delinsAC XP_024303426.1:n.766+199_766+200delinsAC
NM_004612.4:c.973+199_973+200delinsAC MANE Select NP_004603.1:n.973+199_973+200delinsAC
NM_001130916.3:c.742+199_742+200delinsAC NP_001124388.1:n.742+199_742+200delinsAC
NM_001306210.2:c.985+199_985+200delinsAC NP_001293139.1:n.985+199_985+200delinsAC