Canonical Allele Identifier: CA2690966036

Gene: TGFBR1

Linked Data

• gnomAD v4: 9-99142782-G-GCCACCAGGCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99142782_99142783insCCACCAGGCCCA , CM000671.2:g.99142782_99142783insCCACCAGGCCCA	GRCh38
NC_000009.11:g.101905064_101905065insCCACCAGGCCCA , CM000671.1:g.101905064_101905065insCCACCAGGCCCA	GRCh37
NC_000009.10:g.100944885_100944886insCCACCAGGCCCA	NCBI36
NG_007461.1:g.42653_42654insCCACCAGGCCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547314.6:c.766+79_766+80insCCACCAGGCCCA	ENSP00000449934.2:n.766+79_766+80insCCACCAGGCCCA
ENST00000552573.7:c.778+79_778+80insCCACCAGGCCCA	ENSP00000447182.3:n.778+79_778+80insCCACCAGGCCCA
ENST00000548365.6:c.547+79_547+80insCCACCAGGCCCA	ENSP00000448518.2:n.547+79_547+80insCCACCAGGCCCA
ENST00000549021.6:c.535+79_535+80insCCACCAGGCCCA	ENSP00000449028.2:n.535+79_535+80insCCACCAGGCCCA
ENST00000698941.1:c.778+79_778+80insCCACCAGGCCCA	ENSP00000514048.1:n.778+79_778+80insCCACCAGGCCCA
ENST00000698942.1:c.*769+79_*769+80insCCACCAGGCCCA	ENSP00000514049.1:n.*769+79_*769+80insCCACCAGGCCCA
ENST00000374994.9:c.973+79_973+80insCCACCAGGCCCA MANE Select	ENSP00000364133.4:n.973+79_973+80insCCACCAGGCCCA
ENST00000374990.6:c.742+79_742+80insCCACCAGGCCCA	ENSP00000364129.2:n.742+79_742+80insCCACCAGGCCCA
ENST00000374994.8:c.973+79_973+80insCCACCAGGCCCA	ENSP00000364133.4:n.973+79_973+80insCCACCAGGCCCA
ENST00000549766.5:c.985+79_985+80insCCACCAGGCCCA	ENSP00000446685.1:n.985+79_985+80insCCACCAGGCCCA
ENST00000550253.1:c.766+79_766+80insCCACCAGGCCCA	ENSP00000450052.1:n.766+79_766+80insCCACCAGGCCCA
ENST00000552516.5:c.985+79_985+80insCCACCAGGCCCA	ENSP00000447297.1:n.985+79_985+80insCCACCAGGCCCA
NM_001130916.1:c.742+79_742+80insCCACCAGGCCCA	NP_001124388.1:n.742+79_742+80insCCACCAGGCCCA
NM_001130916.2:c.742+79_742+80insCCACCAGGCCCA	NP_001124388.1:n.742+79_742+80insCCACCAGGCCCA
NM_001306210.1:c.985+79_985+80insCCACCAGGCCCA	NP_001293139.1:n.985+79_985+80insCCACCAGGCCCA
NM_004612.2:c.973+79_973+80insCCACCAGGCCCA	NP_004603.1:n.973+79_973+80insCCACCAGGCCCA
NM_004612.3:c.973+79_973+80insCCACCAGGCCCA	NP_004603.1:n.973+79_973+80insCCACCAGGCCCA
XM_011518948.1:c.778+79_778+80insCCACCAGGCCCA	XP_011517250.1:n.778+79_778+80insCCACCAGGCCCA
XM_011518949.1:c.766+79_766+80insCCACCAGGCCCA	XP_011517251.1:n.766+79_766+80insCCACCAGGCCCA
XM_011518950.1:c.535+79_535+80insCCACCAGGCCCA	XP_011517252.1:n.535+79_535+80insCCACCAGGCCCA
XM_011518948.2:c.778+79_778+80insCCACCAGGCCCA	XP_011517250.1:n.778+79_778+80insCCACCAGGCCCA
XM_011518949.2:c.766+79_766+80insCCACCAGGCCCA	XP_011517251.1:n.766+79_766+80insCCACCAGGCCCA
XM_011518950.2:c.535+79_535+80insCCACCAGGCCCA	XP_011517252.1:n.535+79_535+80insCCACCAGGCCCA
XM_017015063.1:c.778+79_778+80insCCACCAGGCCCA	XP_016870552.1:n.778+79_778+80insCCACCAGGCCCA
XM_024447658.1:c.766+79_766+80insCCACCAGGCCCA	XP_024303426.1:n.766+79_766+80insCCACCAGGCCCA
NM_004612.4:c.973+79_973+80insCCACCAGGCCCA MANE Select	NP_004603.1:n.973+79_973+80insCCACCAGGCCCA
NM_001130916.3:c.742+79_742+80insCCACCAGGCCCA	NP_001124388.1:n.742+79_742+80insCCACCAGGCCCA
NM_001306210.2:c.985+79_985+80insCCACCAGGCCCA	NP_001293139.1:n.985+79_985+80insCCACCAGGCCCA