Canonical Allele Identifier: CA1924453331

Gene: CDHR1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84214128_84214131del , CM000672.2:g.84214128_84214131del	GRCh38
NC_000010.10:g.85973884_85973887del , CM000672.1:g.85973884_85973887del	GRCh37
NC_000010.9:g.85963864_85963867del	NCBI36
NG_028034.1:g.24473_24476del

Transcript Alleles

HGVS	Amino-acid Change
NM_033100.4:c.2087_2090del MANE Select	NP_149091.1:p.Asp696AlafsTer3
ENST00000623527.4:c.2087_2090del MANE Select	ENSP00000485478.1:p.Asp696AlafsTer3
NM_001171971.2:c.2040+780_2040+783del	NP_001165442.1:n.2040+780_2040+783del
NM_001171971.3:c.2040+780_2040+783del	NP_001165442.1:n.2040+780_2040+783del
NM_033100.3:c.2087_2090del	NP_149091.1:p.Asp696AlafsTer3
ENST00000332904.7:c.2040+780_2040+783del	ENSP00000331063.3:n.2040+780_2040+783del
ENST00000372117.6:c.1302_1305del
ENST00000459673.1:n.519_522del
ENST00000623399.1:c.211+780_211+783del
ENST00000623527.3:c.2087_2090del	ENSP00000485478.1:p.Asp696AlafsTer3
XM_011540337.1:c.2261_2264del	XP_011538639.1:p.Asp754AlafsTer3
XM_011540338.1:c.2214+780_2214+783del	XP_011538640.1:n.2214+780_2214+783del
XM_011540339.1:c.1640_1643del	XP_011538641.1:p.Asp547AlafsTer3