Canonical Allele Identifier: CA1867260478
Gene: TGFBR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99142915_99142916delinsCG , CM000671.2:g.99142915_99142916delinsCG GRCh38
NC_000009.11:g.101905197_101905198delinsCG , CM000671.1:g.101905197_101905198delinsCG GRCh37
NC_000009.10:g.100945018_100945019delinsCG NCBI36
NG_007461.1:g.42786_42787delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000547314.6:c.766+212_766+213delinsCG ENSP00000449934.2:n.766+212_766+213delinsCG
ENST00000552573.7:c.778+212_778+213delinsCG ENSP00000447182.3:n.778+212_778+213delinsCG
ENST00000548365.6:c.547+212_547+213delinsCG ENSP00000448518.2:n.547+212_547+213delinsCG
ENST00000549021.6:c.535+212_535+213delinsCG ENSP00000449028.2:n.535+212_535+213delinsCG
ENST00000698941.1:c.778+212_778+213delinsCG ENSP00000514048.1:n.778+212_778+213delinsCG
ENST00000698942.1:c.*769+212_*769+213delinsCG ENSP00000514049.1:n.*769+212_*769+213delinsCG
ENST00000374994.9:c.973+212_973+213delinsCG MANE Select ENSP00000364133.4:n.973+212_973+213delinsCG
ENST00000374990.6:c.742+212_742+213delinsCG ENSP00000364129.2:n.742+212_742+213delinsCG
ENST00000374994.8:c.973+212_973+213delinsCG ENSP00000364133.4:n.973+212_973+213delinsCG
ENST00000549766.5:c.985+212_985+213delinsCG ENSP00000446685.1:n.985+212_985+213delinsCG
ENST00000550253.1:c.766+212_766+213delinsCG ENSP00000450052.1:n.766+212_766+213delinsCG
ENST00000552516.5:c.985+212_985+213delinsCG ENSP00000447297.1:n.985+212_985+213delinsCG
NM_001130916.1:c.742+212_742+213delinsCG NP_001124388.1:n.742+212_742+213delinsCG
NM_001130916.2:c.742+212_742+213delinsCG NP_001124388.1:n.742+212_742+213delinsCG
NM_001306210.1:c.985+212_985+213delinsCG NP_001293139.1:n.985+212_985+213delinsCG
NM_004612.2:c.973+212_973+213delinsCG NP_004603.1:n.973+212_973+213delinsCG
NM_004612.3:c.973+212_973+213delinsCG NP_004603.1:n.973+212_973+213delinsCG
XM_011518948.1:c.778+212_778+213delinsCG XP_011517250.1:n.778+212_778+213delinsCG
XM_011518949.1:c.766+212_766+213delinsCG XP_011517251.1:n.766+212_766+213delinsCG
XM_011518950.1:c.535+212_535+213delinsCG XP_011517252.1:n.535+212_535+213delinsCG
XM_011518948.2:c.778+212_778+213delinsCG XP_011517250.1:n.778+212_778+213delinsCG
XM_011518949.2:c.766+212_766+213delinsCG XP_011517251.1:n.766+212_766+213delinsCG
XM_011518950.2:c.535+212_535+213delinsCG XP_011517252.1:n.535+212_535+213delinsCG
XM_017015063.1:c.778+212_778+213delinsCG XP_016870552.1:n.778+212_778+213delinsCG
XM_024447658.1:c.766+212_766+213delinsCG XP_024303426.1:n.766+212_766+213delinsCG
NM_004612.4:c.973+212_973+213delinsCG MANE Select NP_004603.1:n.973+212_973+213delinsCG
NM_001130916.3:c.742+212_742+213delinsCG NP_001124388.1:n.742+212_742+213delinsCG
NM_001306210.2:c.985+212_985+213delinsCG NP_001293139.1:n.985+212_985+213delinsCG