Canonical Allele Identifier: CA2583615130

Gene: CRTC1

Linked Data

• gnomAD v4: 19-18765505-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18765509del , CM000681.2:g.18765509del	GRCh38
NC_000019.9:g.18876319del , CM000681.1:g.18876319del	GRCh37
NC_000019.8:g.18737319del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321949.13:c.992del MANE Select	ENSP00000323332.7:p.Pro331ArgfsTer9
ENST00000321949.12:c.992del	ENSP00000323332.7:p.Pro331ArgfsTer9
ENST00000338797.10:c.1040del	ENSP00000345001.5:p.Pro347ArgfsTer9
ENST00000594658.5:c.869del	ENSP00000468893.1:p.Pro290ArgfsTer9
ENST00000601916.1:c.767del	ENSP00000469285.1:p.Pro256ArgfsTer13
NM_001098482.1:c.1040del	NP_001091952.1:p.Pro347ArgfsTer9
NM_015321.2:c.992del	NP_056136.2:p.Pro331ArgfsTer9
XM_005259833.2:c.1040del	XP_005259890.1:p.Pro347ArgfsTer9
XM_005259834.1:c.992del	XP_005259891.1:p.Pro331ArgfsTer9
XM_005259835.2:c.1040del	XP_005259892.1:p.Pro347ArgfsTer?
XM_005259836.2:c.1040del	XP_005259893.1:p.Pro347ArgfsTer?
XM_006722710.2:c.1040del	XP_006722773.1:p.Pro347ArgfsTer?
XM_011527842.1:c.1040del	XP_011526144.1:p.Pro347ArgfsTer9
XM_005259833.3:c.1040del	XP_005259890.1:p.Pro347ArgfsTer9
XM_005259835.3:c.1040del	XP_005259892.1:p.Pro347ArgfsTer?
XM_005259836.3:c.1040del	XP_005259893.1:p.Pro347ArgfsTer?
XM_006722710.3:c.1040del	XP_006722773.1:p.Pro347ArgfsTer?
XM_011527842.3:c.1040del	XP_011526144.1:p.Pro347ArgfsTer9
XM_017026536.1:c.1040del	XP_016882025.1:p.Pro347ArgfsTer9
XM_017026537.1:c.1040del	XP_016882026.1:p.Pro347ArgfsTer9
XM_024451434.1:c.992del	XP_024307202.1:p.Pro331ArgfsTer?
NM_015321.3:c.992del MANE Select	NP_056136.2:p.Pro331ArgfsTer9
NM_001098482.2:c.1040del	NP_001091952.1:p.Pro347ArgfsTer9