Canonical Allele Identifier: CA2583615129

Gene: CRTC1

Linked Data

• gnomAD v4: 19-18765502-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18765503del , CM000681.2:g.18765503del	GRCh38
NC_000019.9:g.18876313del , CM000681.1:g.18876313del	GRCh37
NC_000019.8:g.18737313del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321949.13:c.986del MANE Select	ENSP00000323332.7:p.Leu329ArgfsTer11
ENST00000321949.12:c.986del	ENSP00000323332.7:p.Leu329ArgfsTer11
ENST00000338797.10:c.1034del	ENSP00000345001.5:p.Leu345ArgfsTer11
ENST00000594658.5:c.863del	ENSP00000468893.1:p.Leu288ArgfsTer11
ENST00000601916.1:c.761del	ENSP00000469285.1:p.Leu254ArgfsTer15
NM_001098482.1:c.1034del	NP_001091952.1:p.Leu345ArgfsTer11
NM_015321.2:c.986del	NP_056136.2:p.Leu329ArgfsTer11
XM_005259833.2:c.1034del	XP_005259890.1:p.Leu345ArgfsTer11
XM_005259834.1:c.986del	XP_005259891.1:p.Leu329ArgfsTer11
XM_005259835.2:c.1034del	XP_005259892.1:p.Leu345ArgfsTer?
XM_005259836.2:c.1034del	XP_005259893.1:p.Leu345ArgfsTer?
XM_006722710.2:c.1034del	XP_006722773.1:p.Leu345ArgfsTer?
XM_011527842.1:c.1034del	XP_011526144.1:p.Leu345ArgfsTer11
XM_005259833.3:c.1034del	XP_005259890.1:p.Leu345ArgfsTer11
XM_005259835.3:c.1034del	XP_005259892.1:p.Leu345ArgfsTer?
XM_005259836.3:c.1034del	XP_005259893.1:p.Leu345ArgfsTer?
XM_006722710.3:c.1034del	XP_006722773.1:p.Leu345ArgfsTer?
XM_011527842.3:c.1034del	XP_011526144.1:p.Leu345ArgfsTer11
XM_017026536.1:c.1034del	XP_016882025.1:p.Leu345ArgfsTer11
XM_017026537.1:c.1034del	XP_016882026.1:p.Leu345ArgfsTer11
XM_024451434.1:c.986del	XP_024307202.1:p.Leu329ArgfsTer?
NM_015321.3:c.986del MANE Select	NP_056136.2:p.Leu329ArgfsTer11
NM_001098482.2:c.1034del	NP_001091952.1:p.Leu345ArgfsTer11