Canonical Allele Identifier: CA563526132

Gene: SPINK5

Linked Data

• dbSNP Id: rs1561708886
• gnomAD v2: 5-147510797-TC-T
• gnomAD v4: 5-148131234-TC-T
• MyVariant Identifiers: chr5:g.147510798del (hg19) ; chr5:g.148131235del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148131235del , CM000667.2:g.148131235del	GRCh38
NC_000005.9:g.147510798del , CM000667.1:g.147510798del	GRCh37
NC_000005.8:g.147490991del	NCBI36
NG_009633.1:g.72264del , LRG_110:g.72264del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256084.8:c.2965-24del MANE Select	ENSP00000256084.7:n.2965-24del
ENST00000256084.7:c.2965-24del	ENSP00000256084.7:n.2965-24del
ENST00000359874.7:c.3055-24del	ENSP00000352936.3:n.3055-24del
NM_001127698.1:c.3055-24del	NP_001121170.1:n.3055-24del
NM_006846.3:c.2965-24del , LRG_110t1:c.2965-24del	NP_006837.2:n.2965-24del
XM_011537550.1:c.2998-24del	XP_011535852.1:n.2998-24del
XM_011537551.1:c.2971-24del	XP_011535853.1:n.2971-24del
XM_011537551.2:c.2971-24del	XP_011535853.1:n.2971-24del
NM_001127698.2:c.3055-24del	NP_001121170.1:n.3055-24del
NM_006846.4:c.2965-24del MANE Select	NP_006837.2:n.2965-24del