Canonical Allele Identifier: CA10640613

Gene: CHPT1 SYCP3

Linked Data

• ClinVar Variation Id: 306758
• ClinVar RCV Id: RCV000355155
• dbSNP Id: rs370467855
• gnomAD v2: 12-102122460-TAGAG-T
• gnomAD v3: 12-101728682-TAGAG-T
• gnomAD v4: 12-101728682-TAGAG-T
• COSMIC: COSN20110028
• MyVariant Identifiers: chr12:g.102122461_102122464del (hg19) ; chr12:g.101728683_101728686del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101728686_101728689del , CM000674.2:g.101728686_101728689del	GRCh38
NC_000012.11:g.102122464_102122467del , CM000674.1:g.102122464_102122467del	GRCh37
NC_000012.10:g.100646595_100646598del	NCBI36
NG_021181.1:g.15784_15787del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229266.8:c.1177-215_1177-212del (CHPT1) MANE Select	ENSP00000229266.3:n.1177-215_1177-212del
ENST00000392924.2:c.*241_*244del (SYCP3) MANE Select	ENSP00000376655.1:n.*241_*244del
ENST00000229266.7:c.1177-215_1177-212del (CHPT1)	ENSP00000229266.3:n.1177-215_1177-212del
ENST00000266743.6:c.*241_*244del (SYCP3)	ENSP00000266743.2:n.*241_*244del
ENST00000392927.7:c.*241_*244del (SYCP3)	ENSP00000376658.3:n.*241_*244del
ENST00000478139.1:n.3652_3655del (SYCP3)
ENST00000478238.1:n.627_630del (SYCP3)
ENST00000546873.1:c.83-1835_83-1832del (CHPT1)
ENST00000549128.5:c.*77-222_*77-219del (CHPT1)	ENSP00000446994.1:n.*77-222_*77-219del
ENST00000552215.5:c.3382_3385del (CHPT1)
ENST00000552351.5:c.*547-215_*547-212del (CHPT1)	ENSP00000447887.1:n.*547-215_*547-212del
NM_001177948.1:c.*241_*244del (SYCP3)	NP_001171419.1:n.*241_*244del
NM_001177949.1:c.*241_*244del (SYCP3)	NP_001171420.1:n.*241_*244del
NM_020244.2:c.1177-215_1177-212del (CHPT1)	NP_064629.2:n.1177-215_1177-212del
NM_153694.4:c.*241_*244del (SYCP3)	NP_710161.1:n.*241_*244del
XM_005268922.3:c.*351_*354del (SYCP3)	XP_005268979.2:n.*351_*354del
XM_005268924.1:c.*351_*354del (SYCP3)	XP_005268981.1:n.*351_*354del
XM_005268925.1:c.*351_*354del (SYCP3)	XP_005268982.1:n.*351_*354del
XM_005268926.3:c.*351_*354del (SYCP3)	XP_005268983.1:n.*351_*354del
XM_005268927.2:c.*351_*354del (SYCP3)	XP_005268984.1:n.*351_*354del
XM_011538421.1:c.*351_*354del (SYCP3)	XP_011536723.1:n.*351_*354del
XM_011538574.1:c.1045-215_1045-212del (CHPT1)	XP_011536876.1:n.1045-215_1045-212del
XM_011538575.1:c.661-215_661-212del (CHPT1)	XP_011536877.1:n.661-215_661-212del
XR_245946.1:n.1460-215_1460-212del (CHPT1)
XM_005268922.5:c.*351_*354del (SYCP3)	XP_005268979.3:n.*351_*354del
XM_005268926.4:c.*351_*354del (SYCP3)	XP_005268983.1:n.*351_*354del
XM_011538421.3:c.*351_*354del (SYCP3)	XP_011536723.2:n.*351_*354del
XM_017019368.2:c.*241_*244del (SYCP3)	XP_016874857.1:n.*241_*244del
XM_024448994.1:c.*241_*244del (SYCP3)	XP_024304762.1:n.*241_*244del
XM_024448995.1:c.*241_*244del (SYCP3)	XP_024304763.1:n.*241_*244del
XM_024448996.1:c.*241_*244del (SYCP3)	XP_024304764.1:n.*241_*244del
XR_001748816.1:n.1367-1835_1367-1832del (CHPT1)
XR_001748817.1:n.1367-1835_1367-1832del (CHPT1)
XR_001748818.1:n.1328-215_1328-212del (CHPT1)
XR_002957362.1:n.1190-215_1190-212del (CHPT1)
XR_245946.2:n.1460-215_1460-212del (CHPT1)
NM_001177949.2:c.*241_*244del (SYCP3) MANE Select	NP_001171420.1:n.*241_*244del
NM_020244.3:c.1177-215_1177-212del (CHPT1) MANE Select	NP_064629.2:n.1177-215_1177-212del
NM_001177948.2:c.*241_*244del (SYCP3)	NP_001171419.1:n.*241_*244del
NM_153694.5:c.*241_*244del (SYCP3)	NP_710161.1:n.*241_*244del