Canonical Allele Identifier: CA10582406

Gene: SPINK1

Linked Data

• ClinVar Variation Id: 239505
• ClinVar RCV Id: RCV000230353
• dbSNP Id: rs878854607
• MyVariant Identifiers: chr5:g.147207648_147207650dupTCA (hg19) ; chr5:g.147207647_147207648insTCA (hg19) ; chr5:g.147828085_147828087dupTCA (hg38) ; chr5:g.147828084_147828085insTCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.147828086_147828088dup , CM000667.2:g.147828086_147828088dup	GRCh38
NC_000005.9:g.147207649_147207651dup , CM000667.1:g.147207649_147207651dup	GRCh37
NC_000005.8:g.147187842_147187844dup	NCBI36
NG_008356.2:g.16145_16147dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296695.10:c.129_131dup MANE Select	ENSP00000296695.5:p.Asp44_Pro45insAsp
ENST00000296695.9:c.129_131dup	ENSP00000296695.5:p.Asp44_Pro45insAsp
ENST00000505722.1:n.44_46dup
ENST00000510027.2:c.129_131dup	ENSP00000427376.1:p.Asp44_Pro45insAsp
NM_003122.4:c.129_131dup	NP_003113.2:p.Asp44_Pro45insAsp
NM_001354966.1:c.129_131dup	NP_001341895.1:p.Asp44_Pro45insAsp
NM_001354966.2:c.129_131dup	NP_001341895.1:p.Asp44_Pro45insAsp
NM_001379610.1:c.129_131dup MANE Select	NP_001366539.1:p.Asp44_Pro45insAsp
NM_003122.5:c.129_131dup	NP_003113.2:p.Asp44_Pro45insAsp