Canonical Allele Identifier: CA620492960
Gene: PAM16 HGNC NCBI
CORO7-PAM16 HGNC NCBI

Linked Data

dbSNP Id: rs1454242385
gnomAD v2: 16-4390990-CAG-C
MyVariant Identifiers: chr16:g.4390991_4390992del (hg19) chr16:g.4340990_4340991del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4340992_4340993del , CM000678.2:g.4340992_4340993del GRCh38
NC_000016.9:g.4390993_4390994del , CM000678.1:g.4390993_4390994del GRCh37
NC_000016.8:g.4330994_4330995del NCBI36
NG_016391.1:g.13769_13770del
NG_016391.2:g.31232_31233del
NG_054893.1:g.15382_15383del

Transcript Alleles

HGVS Amino-acid Change
ENST00000318059.8:c.226-6_226-5del (PAM16) MANE Select ENSP00000315693.3:n.226-6_226-5del
ENST00000318059.7:c.226-6_226-5del (PAM16) ENSP00000315693.3:n.226-6_226-5del
ENST00000571178.1:c.200-6_200-5del (PAM16)
ENST00000571941.5:c.286-6_286-5del (PAM16) ENSP00000460708.1:n.286-6_286-5del
ENST00000571986.5:c.*119-6_*119-5del (PAM16) ENSP00000459802.1:n.*119-6_*119-5del
ENST00000572274.1:n.628-6_628-5del (CORO7-PAM16)
ENST00000572467.5:c.2995-6_2995-5del (CORO7-PAM16) ENSP00000460885.1:n.2995-6_2995-5del
ENST00000573236.5:n.482-6_482-5del (PAM16)
ENST00000573450.5:n.359-6_359-5del (PAM16)
ENST00000573553.5:c.286-6_286-5del (PAM16) ENSP00000459955.1:n.286-6_286-5del
ENST00000573614.5:n.430-6_430-5del (PAM16)
ENST00000575334.5:c.*1521-6_*1521-5del (CORO7-PAM16) ENSP00000458607.1:n.*1521-6_*1521-5del
ENST00000575636.5:c.*119-6_*119-5del (PAM16) ENSP00000458914.1:n.*119-6_*119-5del
ENST00000575848.5:c.262-6_262-5del (PAM16) ENSP00000458412.1:n.262-6_262-5del
ENST00000576217.1:c.226-6_226-5del (PAM16) ENSP00000461047.1:n.226-6_226-5del
ENST00000577031.5:c.226-6_226-5del (PAM16) ENSP00000459113.1:n.226-6_226-5del
NM_001201479.1:c.2995-6_2995-5del (CORO7-PAM16) NP_001188408.1:n.2995-6_2995-5del
NM_016069.9:c.226-6_226-5del (PAM16) NP_057153.8:n.226-6_226-5del
NM_016069.10:c.226-6_226-5del (PAM16) NP_057153.8:n.226-6_226-5del
NM_016069.11:c.226-6_226-5del (PAM16) MANE Select NP_057153.8:n.226-6_226-5del
NM_001201479.2:c.2995-6_2995-5del (CORO7-PAM16) NP_001188408.1:n.2995-6_2995-5del
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